| (triplet expansion)Parallel study of Spinocerebellar Ataxias SCA1, SCA2, SCA3, SCA6, SCA7 | 28 days | LV0167 | +Info |
| Molecular Oncohematology | ABL 5' Mutations | 35 days | LV0633 | +Info |
| Custom Panel | Advanced Bioinformatics analysis and results delivery through Genesys. | 2 days | LV2539 | +Info |
| Lung Cáncer | ALK rearrangement detection by FISH | 21 days | LV4342 | +Info |
| Sexing | Amelogenin test (sex determination) | 28 days | LV1413 | +Info |
| Hemophilia A (Factor VIII) | Analysis for Intron 1 Inversion in F8 gene | 42 days | LV1383 | +Info |
| Hemophilia A (Factor VIII) | Analysis for Intron 22 Inversionin F8 gene | 42 days | LV1382 | +Info |
| Risk for gastrointestinal disorders | Analysis of informative SNPs in ALDOB, LCT, MCM6 and SI genes | 28 days | LV4054 | +Info |
| Aneuploidy detection by QF-PCR (chromosomes 13,18, 21, X and Y) in Amniotic Fluid (AF) | 5 days | LV2145 | +Info |
| Prenatal Diagnosis array | Array CytoScan Optima (Prenatal) | 7 days | LV3491 | +Info |
| Spinocerebellar ataxia 10 | ATTCT Expansion detection in the ATXN10 gene | 28 days | LV2917 | +Info |
| Molecular Oncohematology | BCR-ABL mRNA quantification | 21 days | LV0586 | +Info |
| Beckwith-Wiedemann syndrome | Beckwith-Wiedemann Síndrome Study by Uniparental Disomy detection of chromosome 11 | 28 days | LV0458 | +Info |
| Genetic affiliation | Biological Study of Kinship.Test for confidence. | 42 days | LV1143 | +Info |
| Malignant Melanoma | BRAF exon 15 screening of frequent mutations by Digital Droplet PCR | 7 days | LV4290 | +Info |
| Solid tumor | BRAF exon 15 screening of frequent mutations by Digital Droplet PCR | 7 days | LV4290 | +Info |
| Hereditary Breast and Ovarian Cáncer: NGS and informatics. | BRCA1, BRCA2Next-Generation Sequencing and raw data deliverythrough Genesys for MAMMA Geneprofile | 28 days | LV2662 | +Info |
| Spinal and Bulbar Atrophy, Kennedy type | CAG Expansion detection in the AR gene (SBMA) | 28 days | LV0177 | +Info |
| Dentatorubral-pallidoluysian Atrophy | CAG Expansion detection in the ATN1 gene (DRPLA) | 28 days | LV0176 | +Info |
| Spinocerebellar ataxia 1 (SCA1) | CAG Expansion detection in the ATXN1 gene | 28 days | LV0789 | +Info |
| Spinocerebellar ataxia 2 (SCA2) | CAG Expansion detection in the ATXN2gene by TP-PCR | 28 days | LV1680 | +Info |
| Spinocerebellar ataxia 3 (SCA3) | CAG Expansion detection in the ATXN3 gene | 28 days | LV0791 | +Info |
| Spinocerebellar ataxia 7 (SCA7) | CAG Expansion detection in the ATXN7gene by TP-PCR | 28 days | LV1689 | +Info |
| Spinocerebellar ataxia 8 (SCA8) | CAG Expansion detection in the ATXN8 gene | 28 days | LV0794 | +Info |
| Spinocerebellar ataxia 6 (SCA6) | CAG Expansion detection in the CACNA1A gene | 28 days | LV0792 | +Info |
| Spinocerebellar ataxia 12 (SCA12) | CAG Expansion detection in the PPP2R2B gene | 28 days | LV0795 | +Info |
| Spinocerebellar ataxia 17 (SCA17) | CAG Expansion detection in the TBP gene | 28 days | LV0796 | +Info |
| Myotonic Dystrophy Type 2 | CCTG Expansion detection in the CNBP gene | 42 days | LV0971 | +Info |
| Chickenpox PCR | 14 days | LV2152 | +Info |
| Uniparental Disomy, chromosome 14 | Chromosome 14 paternal uniparental disomy by MS-MLPA | 35 days | LV3983 | +Info |
| Chromosome 14 paternal uniparental disomy by MS-MLPA | 35 days | LV3983 | +Info |
| Russell-Silver, Syndrome | Chromosome 7 paternal uniparental disomy by MS-MLPA | 35 days | LV3902 | +Info |
| Uniparental Disomy, chromosome 7 | Chromosome 7 paternal uniparental disomy by MS-MLPA | 35 days | LV3902 | +Info |
| Common test of all diseases | Chromosome X inactivation analysis | 28 days | LV0222 | +Info |
| Clinical and biological interpretation of molecular studies by NGS up to 15 variants | Clinical and biological interpretation ofmolecular studies by NGS up to 15 variants. | 21 days | LV2886 | +Info |
| Clinical and biological interpretation of molecular studies by NGS up to 5 variants. | Clinical and biological interpretation ofmolecular studies by NGS up to 5 variants. | 21 days | LV2885 | +Info |
| Clinical and biological interpretation of molecular studies by Sanger sequencing | Clinical and biological interpretation ofmolecular studies by Sanger sequencing. | 14 days | LV2884 | +Info |
| Clinical Exome Sequencing for diagnosis. | Clinical Exome trio with report of clinicallyrelevant findings | 56 days | LV3245 | +Info |
| Clinical Exome Sequencing for diagnosis. | Clinical Exome duo with report of clinicallyrelevant findings | 56 days | LV3246 | +Info |
| Clinical Exome Sequencing for diagnosis. | Clinical Exome reanalysis | Consult | LV4169 | +Info |
| Clinical Exome Sequencing for diagnosis. | Clinical Exome single with report of clinicallyrelevant findings | 56 days | LV3247 | +Info |
| Rearrangements genetic diagnosis | Clinical Interpretation of arrays | 42 days | LV2409 | +Info |
| Mitochondrial pathologies | Clinical mitochondrial genome | 35 days | LV3868 | +Info |
| Mitochondrial pathologies | Clinical mitochondrial genome including nucleotide variants and deletions/duplications by MLPA | 35 days | LV3869 | +Info |
| Facioescapulohumeral Dystrophy, type I | Complementary studies of the D4Z4 region (gen DUX4) by pulsed-field gel electrophoresis | 70 days | LV3554 | +Info |
| Drug metabolism | CYP2D6 genotyping related to drug metabolism | 49 days | LV3372 | +Info |
| Intellectual disability | D.I. Autosomal Recessive. NGS of 27 gene panel: ADAT3, ANK3, CC2D1A, CIC, CRADD, CRBN, DLGAP2, FTO, GRIK2, HERC2, MAN1B1, MED23, NPTX2, NSUN2, PRSS12, QKI, SLC4A10, SLC4A4, SNIP1, SOBP, ST3GAL3, TAF2, TECR, TRAPPC9, TTI2, TUSC3, ZNF526. | 42 days | LV2998 | +Info |
| Intellectual disability | D.I. Autosomic Dominant. NGS of 68 gene panel: ARID1A, ARID1B, ASTN2, BEX4, BZRAP1, CACNG2, CADM1, CADPS2, CAMTA1, CDH15, CDH8, CDH9, CNTN4, CSMD1, CTCF, CTNNB1, DCP2, DIP2B, DLG1, DLG4, DOCK8, DYNC1H1, DYRK1A, EHMT1, EPB41L1, FOXP1, FOXP2, FXR1, GATAD2B, GLO1, GLRA3, GRIA1, GRIA2, GRIA4, GRIN1, GRIN2A, GRIN2B, GTF2I, HDAC4, IGF1R, KCNC3, KDM5B, KIF1A, KIRREL3, MBD5, MEF2C, NBEA, NCS1, NPTX2, NR1I3, NUFIP1, NUFIP2, OTX1, PACS1, QKI, RBFOX1, REST, SCN8A, SEMA5A, SMARCA4, SMARCB1, SNAP25, SRGAP3, STX1A, SYNGAP1, ZBTB18, ZC3H14, ZNF385B. | 42 days | LV2997 | +Info |
| Mental retardation, X-linked | D.I. X-Linked NGS of 53 gene panel: ACSL4, AGTR2, ARHGEF6, ARX, ASMT, ATRX, BRWD3, CASK, CCDC22, CLIC2, CNKSR2, CUL4B, DLG3, FGD1, FRMPD4, FTSJ1, GABRE, GDI1, GRIA3, HCFC1, HSD17B10, IL1RAPL1, IQSEC2, KIAA2022, KLF8, MAGT1, MAOA, MAOB, MECP2, NLGN3, NLGN4X, NXF2, NXF5, OPHN1, P2RY8, PAK3, PLXNA3, PLXNB3, PTCHD1, RAB39B, RPS6KA3, RPS6KA6, SOX3, SYP, TRPC5, TSPAN7, ZCCHC12, ZDHHC15, ZMYM3, ZNF41, ZNF630, ZNF711, ZNF81 | 42 days | LV3001 | +Info |
| Facioescapulohumeral Dystrophy, type I | Deletion detection of D4Z4 region (gene DUX4) by Southern Blot | 70 days | LV0675 | +Info |
| Myelofibrosis, somatic | Deletion/duplication study ofCALR mutations (types I and II) | 28 days | LV3059 | +Info |
| Lung Cáncer | Detection and quantification of p.L858R mutation in the EGFR gene by Digital Droplet PCR | 21 days | LV4204 | +Info |
| Lung Cáncer | Detection and quantification of p.T790M mutation in the EGFR gene by Digital Droplet PCR | 7 days | LV4203 | +Info |
| Ocular Pharyngeal Muscular Dystrophy | Detection of CGC expansion in the PABPN1 gene | 28 days | LV0327 | +Info |
| Fragile X Premature ovarian failure (FXPOI) | Detection of CGG alleles (normal and expanded) in the FMR1 gene, by PCR and TP-PCR. | 28 days | LV2407 | +Info |
| Fragile X Syndrome (FRAXA) | Detection of CGG alleles (normal and expanded) in the FMR1 gene, by PCR and TP-PCR. | 28 days | LV2407 | +Info |
| Fragile X tremor/ataxia syndrome (FXTAS) | Detection of CGG alleles (normal and expanded) in the FMR1 gene, by PCR and TP-PCR. | 28 days | LV2407 | +Info |
| Huntington disease-like 2 | Detection of CTG expansion in the JPH3 gene | 35 days | LV3997 | +Info |
| Incontinentia Pigmenti | Detection of deletion in the IKBKG gene | 28 days | LV0221 | +Info |
| Williams-Beuren syndrome (WBS) | Detection of deletions and duplications in the 7q11.2 genomic region by MLPA | 28 days | LV0245 | +Info |
| Inherited dystonias | Detection of deletions and duplications in the ATP1A3, PRKRA, THAP1, TOR1A genes by MLPA | 28 days | LV4112 | +Info |
| Menkes disease | Detection of deletions and duplications in the ATP7A gene by MLPA | 28 days | LV2298 | +Info |
| Muscular Dystrophy Limb-Girdle type 2A (LGMD2A) | Detection of deletions and duplications in the CAPN3 gene by MLPA | 28 days | LV4075 | +Info |
| Bartter syndrome type 3 | Detection of deletions and duplications in the CLCNKB gene by MLPA | 28 days | LV3849 | +Info |
| Anterior segment anomalies with or without cataract | Detection of deletions and duplications in the EYA1 gene by MLPA | 28 days | LV4183 | +Info |
| Branchiootic syndrome 1 | Detection of deletions and duplications in the EYA1 gene by MLPA | 28 days | LV4183 | +Info |
| Branchiootorenal syndrome 1, with or without cataracts | Detection of deletions and duplications in the EYA1 gene by MLPA | 28 days | LV4183 | +Info |
| Otofaciocervical sindrome | Detection of deletions and duplications in the EYA1 gene by MLPA | 28 days | LV4183 | +Info |
| Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | Detection of deletions and duplications in the GCH1 gene by MLPA | 28 days | LV2292 | +Info |
| Diabetes MODY type 1 | Detection of deletions and duplications in the GCK gene by MLPA | 28 days | LV3929 | +Info |
| Diabetes MODY type 2 | Detection of deletions and duplications in the GCK gene by MLPA | 28 days | LV3929 | +Info |
| Diabetes MODY type 3 | Detection of deletions and duplications in the GCK gene by MLPA | 28 days | LV3929 | +Info |
| Diabetes MODY type 5 | Detection of deletions and duplications in the GCK gene by MLPA | 28 days | LV3929 | +Info |
| Deafness, nonsyndromic sensorineural autosomal recessive (DFNB1) | Detection of deletions and duplications in the GJB2 and GJB6 genes by MLPA | 28 days | LV1541 | +Info |
| Tay-Sachs disease | Detection of deletions and duplications in the HEXA gene by MLPA | 28 days | LV4079 | +Info |
| Alagille, type 1 syndrome | Detection of deletions and duplications in the JAG1 gene by MLPA | 28 days | LV2302 | +Info |
| Waardenburg syndrome | Detection of deletions and duplications in the MITF, PAX3 and SOX10 genes by MLPA | 28 days | LV3921 | +Info |
| Albinism, Oculo-cutaneous type II | Detection of deletions and duplications in the OCA2 gene by MLPA | 28 days | LV2301 | +Info |
| Familial cancer susceptibility | Detection of deletions and duplications in the PALB2 gene by MLPA | 28 days | LV3989 | +Info |
| Infantile neuroaxonal dystrophy 1 | Detection of deletions and duplications in the PLA2G6 gene by MLPA | 28 days | LV3371 | +Info |
| Neurodegeneration with brain iron accumulation 1 | Detection of deletions and duplications in the PLA2G6 gene by MLPA | 28 days | LV3371 | +Info |
| Parkinson disease 14 | Detection of deletions and duplications in the PLA2G6 gene by MLPA | 28 days | LV3371 | +Info |
| Multiminicore Disease | Detection of deletions and duplications in the RYR1 gene by MLPA | 35 days | LV3974 | +Info |
| Gitelman Syndrome | Detection of deletions and duplications in the SLC12A3 gene by MLPA | 28 days | LV3848 | +Info |
| Segawa syndrome | Detection of deletions and duplications in the TH gene by MLPA | 28 days | LV2293 | +Info |
| Hypogonadotropic hypogonadism 1 with or without anosmia | Detection of deletions and/or duplications in ANOS1 gene by MLPA. | 28 days | LV2894 | +Info |
| Epileptic encephalopathy, early infantile, 1 | Detection of deletions and/or duplications in ARX and CDKL5 genes by MLPA | 28 days | LV3785 | +Info |
| Epileptic encephalopathy, early infantile, 2 | Detection of deletions and/or duplications in ARX and CDKL5 genes by MLPA | 28 days | LV3785 | +Info |
| Wilson disease | Detection of deletions and/or duplications in ATP7B gene by MLPA. | 28 days | LV2927 | +Info |
| Tumor predisposition syndrome | Detection of deletions and/or duplications in BAP1 gene by MLPA | 28 days | LV3080 | +Info |
| Episodic ataxia, type 2 | Detection of deletions and/or duplications in CACNA1A gene by MLPA | 35 days | LV2919 | +Info |
| Familial Hemiplegic Migraine 1 | Detection of deletions and/or duplications in CACNA1A gene by MLPA | 35 days | LV2919 | +Info |
| Spinocerebellar ataxia 6 (SCA6) | Detection of deletions and/or duplications in CACNA1A gene by MLPA | 35 days | LV2919 | +Info |
| FG syndrome 4 | Detection of deletions and/or duplications in CASK gene by MLPA | 28 days | LV3083 | +Info |
| Ceroid lipofuscinosis, neuronal, 6 | Detection of deletions and/or duplications in CLN6 gene by MLPA | 28 days | LV3790 | +Info |
| Ceroid lipofuscinosis, neuronal, Kufs type, adult onset | Detection of deletions and/or duplications in CLN6 gene by MLPA | 28 days | LV3790 | +Info |
| Ehlers-Danlos syndrome type 1 | Detection of deletions and/or duplications in COL5A1 gene by MLPA | 28 days | LV3084 | +Info |
| Aarskog-Scott syndrome | Detection of deletions and/or duplications in FGD1 gene by MLPA | 28 days | LV2320 | +Info |
| Cleidocranial dysplasia and isolated cranial ossification defects group: Cleidocranial dysplasia, Parietal foramina | Detection of deletions and/or duplications in genes ALX4, MSX2 and RUNX2 by MLPA | 28 days | LV3046 | +Info |
| Growth hormone deficiency, isolated, type IA | Detection of deletions and/or duplications in GH1gene by MLPA. | 42 days | LV2553 | +Info |
| Growth hormone deficiency, isolated, type IB | Detection of deletions and/or duplications in GH1gene by MLPA. | 42 days | LV2553 | +Info |
| Growth hormone deficiency, isolated, type II | Detection of deletions and/or duplications in GH1gene by MLPA. | 42 days | LV2553 | +Info |
| Kowarski syndrome | Detection of deletions and/or duplications in GH1gene by MLPA. | 42 days | LV2553 | +Info |
| Epilepsy, focal, with speech disorder and with or without mental retardation | Detection of deletions and/or duplications in GRIN2A and GRIN2B CDKL5 genes by MLPA | 28 days | LV3786 | +Info |
| Epileptic encephalopathy, early infantile, 27 | Detection of deletions and/or duplications in GRIN2A and GRIN2B CDKL5 genes by MLPA | 28 days | LV3786 | +Info |
| Mucopolysaccharidosis Type II | Detection of deletions and/or duplications in IDS gene by MLPA | 28 days | LV2513 | +Info |
| Muscular Dystrophy, Congenital Merosin-Deficient | Detection of deletions and/or duplications in LAMA2 gene by MLPA | 42 days | LV3920 | +Info |
| Hypercholesterolemia, familial | Detection of deletions and/or duplications in LDLR gene by MLPA | 28 days | LV2464 | +Info |
| Cardiomyopathy, dilated | Detection of deletions and/or duplications in LMNA gene by MLPA | 28 days | LV3919 | +Info |
| Leukodystrophy, adult-onset, autosomal dominant | Detection of deletions and/or duplications in LMNB1 gene by MLPA | 42 days | LV2958 | +Info |
| Colorectal cancer, hereditary nonpolyposis, type 2 | Detection of deletions and/or duplications in MLH1 gene by MLPA. | 28 days | LV2547 | +Info |
| Colorectal cancer, hereditary nonpolyposis, type 2 | Detection of deletions and/or duplications in MSH6 gene by MLPA | 28 days | LV2550 | +Info |
| Cornelia de Lange Syndrome | Detection of deletions and/or duplications in NIPBL gene by MLPA. | 28 days | LV2545 | +Info |
| Deafness, autosomal recessive 23 | Detection of deletions and/or duplications in PCDH15 gene by MLPA | 28 days | LV2476 | +Info |
| Usher syndrome, type 1F | Detection of deletions and/or duplications in PCDH15 gene by MLPA | 28 days | LV2476 | +Info |
| Epileptic encephalopathy, early infantile, 9; Juberg-Hellman syndrome | Detection of deletions and/or duplications in PCDH19 gene by MLPA | 28 days | LV3787 | +Info |
| Ehlers-Danlos syndrome, type VI | Detection of deletions and/or duplications in PLOD1 gene by MLPA | 28 days | LV3077 | +Info |
| Pituitary hormone deficiency, combined, 2 | Detection of deletions and/or duplications in PROP1 gene by MLPA. | 28 days | LV2893 | +Info |
| Alzheimer disease, Type 3 | Detection of deletions and/or duplications in PSEN1 gene by MLPA | 28 days | LV3079 | +Info |
| Townes-Brocks Syndrome | Detection of deletions and/or duplications in SALL1 gene by MLPA | 28 days | LV3086 | +Info |
| Duane-radial ray syndrome | Detection of deletions and/or duplications in SALL4 gene by MLPA | 28 days | LV3085 | +Info |
| Pheochromocytoma | Detection of deletions and/or duplications in SDHB gene by MLPA | 28 days | LV2528 | +Info |
| Angioedema, Inherited type I and II | Detection of deletions and/or duplications in SERPING1 by MLPA | 28 days | LV2947 | +Info |
| Pendred Syndrome | Detection of deletions and/or duplications in SLC26A4 gene by MLPA | 28 days | LV3087 | +Info |
| Familial Spastic Paraplegia 7 | Detection of deletions and/or duplications in SPG7 gene by MLPA | 28 days | LV2456 | +Info |
| Epileptic encephalopathy, early infantile, 4 | Detection of deletions and/or duplications in STXBP1 gene by MLPA | 28 days | LV3788 | +Info |
| Aniridia | Detection of deletions and/or duplications in the PAX6 and WT1 genes by MLPA | 28 days | LV2674 | +Info |
| Paragangliomas | Detection of deletions and/or duplications in the SDHB, SDHC, SDHD, SDHA, SDHAF2 genes by MLPA. | 42 days | LV2666 | +Info |
| Pheochromocytoma | Detection of deletions and/or duplications in the SDHB, SDHC, SDHD, SDHA, SDHAF2 genes by MLPA. | 42 days | LV2666 | +Info |
| Cystic Fibrosis | Detection of deletions and/or duplications in theCFTR gene by MLPA. | 42 days | LV2663 | +Info |
| Ehlers-Danlos Syndrome, type III | Detection of deletions and/or duplications in TNXB gene by MLPA | 28 days | LV1161 | +Info |
| Retinitis Pigmentosa | Detection of deletions and/or duplications in USH2A gene by MLPA | 42 days | LV3109 | +Info |
| Spinocerebellar ataxia, autosomal recessive 12 | Detection of deletions and/or duplications in WWOX gene by MLPA | 28 days | LV3789 | +Info |
| Mental retardation autosomal dominant 30 | Detection of deletions and/or duplications in ZMYND11 gene by MLPA | 28 days | LV3783 | +Info |
| Myotonia congenita, recessive | Detection of deletions and/or duplications inCLCN1 gene by MLPA. | 28 days | LV2645 | +Info |
| Myotonia Congenita | Detection of deletions and/or duplications inCLCN1 gene by MLPA. | 28 days | LV2645 | +Info |
| Stickler syndrome, types I, II | Detection of deletions and/or duplications inCOL11A1 and COL2A1 genes by MLPA | 42 days | LV2898 | +Info |
| Rubinstein-Taybi Syndrome | Detection of deletions and/or duplications inCREBBP gene by MLPA | 28 days | LV3731 | +Info |
| Multiple Cavernomatosis | Detection of deletions and/or duplications inKRIT1, CCM2 y PDCD10 genes by MLPA | 35 days | LV2552 | +Info |
| Melanoma and neural system tumor syndrome | Detection of deletions and/or duplicationsin CDKN2A gene by MLPA | 28 days | LV3081 | +Info |
| Pituitary hormone deficiency, combined, 5 | Detection of deletions and/or duplicationsin HESX1 gene by MLPA | 28 days | LV3160 | +Info |
| Septooptic Dysplasia | Detection of deletions and/or duplicationsin HESX1 gene by MLPA | 28 days | LV3160 | +Info |
| Norrie disease | Detection of deletions and/or duplicationsin NDP gene by MLPA | 28 days | LV3039 | +Info |
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 | Detection of deletions and/or duplicationsin POMT1 gene by MLPA | 28 days | LV2972 | +Info |
| Pitt-Hopkins syndrome | Detection of deletions and/or duplicationsin TCF4 gene by MLPA | 28 days | LV3082 | +Info |
| Familial Aggregation Study | Detection of deletions and/or duplicationsin TP53 gene by MLPA | 28 days | LV2974 | +Info |
| Gastric Cáncer | Detection of deletions and/or duplicationsin TP53 gene by MLPA | 28 days | LV2974 | +Info |
| Hereditary Breast and Ovarian Cáncer | Detection of deletions and/or duplicationsin TP53 gene by MLPA | 28 days | LV2974 | +Info |
| Li Fraumeni Syndrome | Detection of deletions and/or duplicationsin TP53 gene by MLPA | 28 days | LV2974 | +Info |
| Pancreatic Cancer (Sd Peutz Jeghers, Pancreatitis) | Detection of deletions and/or duplicationsin TP53 gene by MLPA | 28 days | LV2974 | +Info |
| Alzheimer disease, Type 1 | Detection of deletions and/orduplications in APP gene by MLPA | 28 days | LV3078 | +Info |
| Phelan-McDermid syndrome | Detection of deletions in 22q13.3 by MLPA | 28 days | LV1458 | +Info |
| Y chromosome microdeletions | Detection of deletions in regions AZFa, AZFb, AZFc of the Y chromosome, associated to male infertility | 28 days | LV0224 | +Info |
| X-linked hypophosphatemic rickets | Detection of deletions/duplications in the PHEX gene by MLPA | 28 days | LV4193 | +Info |
| Microdeletion syndromes | Detection of deletions/duplications in the 1q21.1, 15q13, 16p11 and 17q12 genomic regions by MLPA | 28 days | LV4149 | +Info |
| Hyperoxaluria, primary, type I (HP1) | Detection of deletions/duplications in the AGXT, GRHPR genes by MLPA | 28 days | LV4201 | +Info |
| Primary hiperoxaluria type II | Detection of deletions/duplications in the AGXT, GRHPR genes by MLPA | 28 days | LV4201 | +Info |
| Porphyria, Acute Intermittent | Detection of deletions/duplications in the ALAD, HMBS, UROS, UROD, CPOX, FECH, PPOX genes by MLPA | 28 days | LV4185 | +Info |
| Porphyria, Acute Intermittent | Detection of deletions/duplications in the ALAD,HMBS, PPOX genes by MLPA | 28 days | LV4186 | +Info |
| Parathyroid Carcinoma | Detection of deletions/duplications in the CDC73 gene by MLPA | 28 days | LV4141 | +Info |
| WHIM syndrome | Detection of deletions/duplications in the CXCR4 gene by MLPA | 28 days | LV4058 | +Info |
| Mitochondrial DNA depletion syndromes | Detection of deletions/duplications in the DGUOK, MPV17, RRM2B, SUCLA2, SUCLG1, TK2 genes by MLPA | 28 days | LV4117 | +Info |
| Smith-Lemli-Opitz Syndrome | Detection of deletions/duplications in the DHCR7 gene by MLPA | 28 days | LV4210 | +Info |
| Spastic paraplegia 79, autosomal recessive | Detection of deletions/duplications in the DSP and PKP2 genes by MLPA | 28 days | LV4136 | +Info |
| Glycogen Storage Disease Type II (Pompe Disease) | Detection of deletions/duplications in the GAA gene by MLPA | 28 days | LV4159 | +Info |
| Krabbe disease | Detection of deletions/duplications in the GALC gene by MLPA | 28 days | LV4172 | +Info |
| Beta Thalassaemia | Detection of deletions/duplications in the HBB gen by MLPA | 28 days | LV4171 | +Info |
| Van der Woude syndrome | Detection of deletions/duplications in the IRF6 and GRHL3 genes by MLPA. | 28 days | LV4119 | +Info |
| Optic atrophy 1 | Detection of deletions/duplications in the OPA1 gene by MLPA | 28 days | LV4120 | +Info |
| Renpenning syndrome | Detection of deletions/duplications in the PQBP1 gene by MLPA | 28 days | LV4057 | +Info |
| Phelan-McDermid syndrome | Detection of deletions/duplications in the SHANK3 gene by MLPA | 28 days | LV4146 | +Info |
| Thyroid dysgenesis | Detection of deletions/duplications in the TPO, PAX8, FOXE1, NKX2-1 and TSHR genes by MLPA | 28 days | LV4143 | +Info |
| Spastic paraplegia 79, autosomal recessive | Detection of deletions/duplications in the UCHL1 gene by MLPA | 28 days | LV4178 | +Info |
| Porphyria, Acute Intermittent | Detection of deletions/duplications in the UROS, UROD, CPOX, FECH genes by MLPA | 28 days | LV4188 | +Info |
| Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | Detection of dodecamer repeat expansion in the CSTB gene promoter region | 42 days | LV4220 | +Info |
| Spondyloarthropathy, susceptibility to, 1 | Detection of HLA-B27 allele | 28 days | LV2297 | +Info |
| Spinal Muscular Atrophy, proximal (SMA) | Detection of homozygous deletion in the SMN1 gene | 28 days | LV0178 | +Info |
| Spinal muscular atrophy-2 | Detection of homozygous deletion in the SMN1 gene | 28 days | LV0178 | +Info |
| Familial Cardiomyopathy | Detection of large delections orduplications in gene the GLA, MYBPC3 and TNNT2 genes by MLPA | 35 days | LV3611 | +Info |
| Capillary and Arteriovenous Malformations | Detection of large delections orduplications in RASA1 gene by MLPA | 28 days | LV3612 | +Info |
| Telangiectasia, hereditary hemorrhagic, type 1 (Rendu Osler Weber) | Detection of large deletions / duplications in the ENG and ACVRL1 genes by MLPA | 28 days | LV3212 | +Info |
| Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset | Detection of large deletions / duplications inthe CYP1B1 gene by MLPA | 28 days | LV3231 | +Info |
| Short QT Syndrome | Detection of large deletions and duplications in the KCNQ1, KCNH2 and KCNJ2 by MLPA | 28 days | LV1303 | +Info |
| Blepharophimosis, Ptosis and Epicanthus Inversus; BPES | Detection of large deletions and/ or duplicationsin the FOXL2 gene by MLPA | 28 days | LV2169 | +Info |
| Pseudoxanthoma Elasticum | Detection of large deletions and/or duplications ABCC6 gene by MLPA | 28 days | LV1146 | +Info |
| Dravet syndrome | Detection of large deletions and/or duplications in SCN1A gene by MLPA | 28 days | LV2329 | +Info |
| Saethre-Chotzen syndrome | Detection of large deletions and/or duplications in the TWIST1 gene by MLPA | 28 days | LV2247 | +Info |
| Hereditary Breast and Ovarian Cáncer | Detection of large deletions and/or duplications in BRCA1 and BRCA2 genes by MLPA | 28 days | LV0187 | +Info |
| Hereditary Breast and Ovarian Cáncer | Detection of large deletions and/or duplications in BRCA1 gene by MLPA | 28 days | LV1212 | +Info |
| Hereditary Breast and Ovarian Cáncer | Detection of large deletions and/or duplications in BRCA2 gene by MLPA | 28 days | LV1213 | +Info |
| Exostoses, hereditary multiple | Detection of large deletions and/or duplications in EXT1 and EXT2 genes by MLPA | 28 days | LV0473 | +Info |
| Hemophilia A (Factor VIII) | Detection of large deletions and/or duplications in F8 gene by MLPA | 42 days | LV1384 | +Info |
| Axenfeld-Rieger Syndrome | Detection of large deletions and/or duplications in FOXC1 gene by MLPA | 28 days | LV1567 | +Info |
| Rett syndrome | Detection of large deletions and/or duplications in FOXG1 gene by MLPA | 28 days | LV1259 | +Info |
| Alpha-Galactosidase A Deficiency (Fabry disease) | Detection of large deletions and/or duplications in GLA gene by MLPA | 28 days | LV1181 | +Info |
| Opitz G/BBB Syndrome, X-Linked | Detection of large deletions and/or duplications in MID1 gene by MLPA | 28 days | LV1207 | +Info |
| Sotos Syndrome | Detection of large deletions and/or duplications in NSD1 gene by MLPA | 28 days | LV1148 | +Info |
| Polycystic Kidney Disease, Autosomal Dominant | Detection of large deletions and/or duplications in PKD2 gene by MLPA | 28 days | LV1330 | +Info |
| Polycystic Kidney Disease, autosomal recessive | Detection of large deletions and/or duplications in PKHD1 gene by MLPA | 42 days | LV1426 | +Info |
| Colorectal cancer, hereditary nonpolyposis, type 2 | Detection of large deletions and/or duplications in PMS2 gene by MLPA | 35 days | LV1183 | +Info |
| Brugada syndrome | Detection of large deletions and/or duplications in SCN5A gene by MLPA | 28 days | LV1302 | +Info |
| Myoclonus Dystonia 11 | Detection of large deletions and/or duplications in SGCE gene by MLPA | 28 days | LV1588 | +Info |
| Short stature, idiopathic familial | Detection of large deletions and/or duplications in SHOX gene by MLPA | 28 days | LV0692 | +Info |
| Legius syndrome | Detection of large deletions and/or duplications in SPRED1 gene by MLPA | 28 days | LV1580 | +Info |
| Holt Oram syndrome | Detection of large deletions and/or duplications in TBX5 gene by MLPA | 28 days | LV2328 | +Info |
| Spastic paraplegia 3A | Detection of large deletions and/or duplications in the ATL1 gene by MLPA | 28 days | LV2295 | +Info |
| Telangiectasia ataxia | Detection of large deletions and/or duplications in the ATM gene by MLPA | 28 days | LV1463 | +Info |
| Osteogenesis Imperfecta | Detection of large deletions and/or duplications in the COL1A1 gene by MLPA | 28 days | LV0972 | +Info |
| Osteogenesis Imperfecta | Detection of large deletions and/or duplications in the COL1A2 gene by MLPA | 28 days | LV0973 | +Info |
| Ehlers-Danlos syndrome, type IV (vascular) | Detection of large deletions and/or duplications in the COL3A1 gene by MLPA | 28 days | LV0889 | +Info |
| Alport syndrome | Detection of large deletions and/or duplications in the COL4A4 gene by MLPA | 28 days | LV3275 | +Info |
| Hematuria, benign familial | Detection of large deletions and/or duplications in the COL4A4 gene by MLPA | 28 days | LV3275 | +Info |
| Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency | Detection of large deletions and/or duplications in the CYP21A2 gene by MLPA | 28 days | LV1293 | +Info |
| Ocular Albinism type 1 | Detection of large deletions and/or duplications in the GPR143 gene by MLPA | 28 days | LV2275 | +Info |
| Mental retardation, X-linked 21/34 | Detection of large deletions and/or duplications in the IL1RAPL1 gene by MLPA | 28 days | LV3894 | +Info |
| Long QT syndrome | Detection of large deletions and/or duplications in the KCNQ1, KCNE1,KCNH2, KCNE2, KCNJ2 and SCN5A genes by MLPA | 42 days | LV1301 | +Info |
| Atrial Fibrillation Familial | Detection of large deletions and/or duplications in the KCNQ1, KCNH2, KCNE2 genes by MLPA | 28 days | LV1304 | +Info |
| Epilepsy Benign Neonatal | Detection of large deletions and/or duplications in the KCNQ2 gene by MLPA | 28 days | LV1116 | +Info |
| Rett syndrome | Detection of large deletions and/or duplications in the MECP2 gene by MLPA | 28 days | LV0956 | +Info |
| Progressive external ophthalmoplegia, 1.3, Mitochondrial ataxia SANDO and SCAE, Mitochondrial DNA depletion syndromes Alpers, MNGIE, AD, AR. | Detection of large deletions and/or duplications in the mitochondrial genome by MLPA | 28 days | LV3867 | +Info |
| Colorectal cancer, hereditary nonpolyposis, type 2 | Detection of large deletions and/or duplications in the MLH1 and MSH2 genes by MLPA | 28 days | LV0183 | +Info |
| Colorectal adenomatous polyposis, autosomal recessive | Detection of large deletions and/or duplications in the MUTYH gene by MLPA | 28 days | LV2403 | +Info |
| Niemann-Pick disease | Detection of large deletions and/or duplications in the NPC1 gene by MLPA | 28 days | LV3893 | +Info |
| Phenylketonuria | Detection of large deletions and/or duplications in the PAH gene by MLPA | 28 days | LV3872 | +Info |
| Pelizaeus-Merzbacher disease (PMD) | Detection of large deletions and/or duplications in the PLP1 gene by MLPA | 28 days | LV1095 | +Info |
| Charcot-Marie-Tooth disease, type 4F | Detection of large deletions and/or duplications in the PRX gene by MLPA | 35 days | LV3900 | +Info |
| Dejerine-Sottas syndrome | Detection of large deletions and/or duplications in the PRX gene by MLPA | 35 days | LV3900 | +Info |
| Gorlin, syndrome | Detection of large deletions and/or duplications in the PTCH1 gene by MLPA | 28 days | LV2175 | +Info |
| Coffin-Lowry syndrome | Detection of large deletions and/or duplications in the RPS6KA3 gene by MLPA | 28 days | LV1537 | +Info |
| GLUT1 deficiency syndrome 2 or Dystonia 18. | Detection of large deletions and/or duplications in the SLC2A1 gene by MLPA | 28 days | LV3244 | +Info |
| GLUT1 deficiency syndrome type I. | Detection of large deletions and/or duplications in the SLC2A1 gene by MLPA | 28 days | LV3244 | +Info |
| Spinal muscular atrophy | Detection of large deletions and/or duplications in the SMN1, SMN2 genes by MLPA | 28 days | LV2294 | +Info |
| Spastic paraplegia 3A | Detection of large deletions and/or duplications in the SPAST gene by MLPA | 28 days | LV2296 | +Info |
| Peutz-Jeghers syndrome | Detection of large deletions and/or duplications in the STK11 gene by MLPA | 28 days | LV1574 | +Info |
| Tuberous Sclerosis | Detection of large deletions and/or duplications in the TSC1 gene by MLPA | 28 days | LV0933 | +Info |
| Tuberous Sclerosis | Detection of large deletions and/or duplications in the TSC2 gene by MLPA | 28 days | LV0934 | +Info |
| Polycystic Kidney Disease, Autosomal Dominant | Detection of large deletions and/or duplicationsin PKD1 and PKD2 genes by MLPA | 35 days | LV1329 | +Info |
| Cowden syndrome | Detection of large deletions and/or duplicationsin PTEN gene by MLPA | 28 days | LV1351 | +Info |
| Alport syndrome | Detection of large deletions and/or duplicationsin the COL4A3 gene by MLPA | 28 days | LV3274 | +Info |
| Hematuria, benign familial | Detection of large deletions and/or duplicationsin the COL4A3 gene by MLPA | 28 days | LV3274 | +Info |
| Alport Syndrome, X-linked | Detection of large deletions and/or duplicationsin the COL4A5 gene by MLPA | 28 days | LV0987 | +Info |
| Glycine encephalopathy | Detection of large deletions and/or duplicationsin the GLDC gene by MLPA | 28 days | LV3399 | +Info |
| Pituitary hormone deficiency, combined, 3 | Detection of large deletions and/or duplicationsin the LHX3 gene by MLPA | 35 days | LV3432 | +Info |
| X-Linked Myotubular Myopathy | Detection of large deletions and/or duplicationsin the MTM1 gene by MLPA | 28 days | LV2167 | +Info |
| Craniofacial-deafness-hand syndrome | Detection of large deletions and/or duplicationsin the PAX3 gene by MLPA | 28 days | LV3536 | +Info |
| Waardenburg syndrome, type 1 | Detection of large deletions and/or duplicationsin the PAX3 gene by MLPA | 28 days | LV3536 | +Info |
| Waardenburg syndrome, type 3 | Detection of large deletions and/or duplicationsin the PAX3 gene by MLPA | 28 days | LV3536 | +Info |
| Dementia, Lewy body | Detection of large deletions and/or duplicationsin the SNCA gene by MLPA | 35 days | LV3544 | +Info |
| Parkinson disease 1 | Detection of large deletions and/or duplicationsin the SNCA gene by MLPA | 35 days | LV3544 | +Info |
| Parkinson disease 4 | Detection of large deletions and/or duplicationsin the SNCA gene by MLPA | 35 days | LV3544 | +Info |
| Campomelic Dysplasia | Detection of large deletions and/or duplicationsin the SOX9 gene by MLPA | 35 days | LV3291 | +Info |
| Spastic paraplegia 11, autosomal recessive | Detection of large deletions and/or duplicationsin the SPG11 gene by MLPA | 28 days | LV3534 | +Info |
| Treacher Collins syndrome | Detection of large deletions and/or duplicationsin the TCOF1 gene by MLPA | 28 days | LV1549 | +Info |
| Fanconi Anemia | Detection of large deletions and/orduplications in the FANCA gene by MLPA | 35 days | LV1586 | +Info |
| Marfan syndrome | Detection of large deletions and/orduplications in the FBN1 gene by MLPA | 28 days | LV1575 | +Info |
| Cohen Syndrome | Detection of large deletions and/orduplications in the VPS13B gene by MLPA | 35 days | LV3297 | +Info |
| Mowat-Wilson Syndrome | Detection of large deletions and/orduplications in the ZEB2 gene by MLPA | 35 days | LV3298 | +Info |
| Factor XII, Deficiency of | Detection of mutation c.46C>T of the F12 gene | 28 days | LV1294 | +Info |
| Factor V (Leiden) deficiency | Detection of mutation R506Q in the F5 (Factor V) gene | 28 days | LV0190 | +Info |
| MELAS syndrome | Detection of mutations 12770A>G, 13045A>C, c.1308484A>T, 13513G>A and 13514A>G in the MT-ND5 mitochondrial gene | 28 days | LV0438 | +Info |
| MELAS syndrome | Detection of mutations 3243A>G, 3271T>C and 3252A>G in the mitochondrial gene MT-TL1 | 28 days | LV0241 | +Info |
| MERRF syndrome | Detection of mutations 8344A>G, 8356T>C and 8363G>A in the mitochondrial gene MT-TK | 28 days | LV0242 | +Info |
| Neuropathy, Ataxia and Retinitis Pigmentosa | Detection of mutations 8993T>G and 8993T>C in the mitochondrial gene MT-ATP6 | Consult | LV0229 | +Info |
| Hemochromatosis | Detection of mutations C282Y, H63D and S65C in the HFE gene | 28 days | LV0213 | +Info |
| Leber Hereditary Optic Neuropathy (LHON) | Detection of mutations m.3460G>A , m.11778G>A, m.14484T>C, m.14482C>G, m.14495A>G,m.14498T>C, m.14596A>T in the mitochondrial | 28 days | LV0231 | +Info |
| Apert syndrome | Detection of mutations S252W and P253R in the FGFR2 gene | 28 days | LV0062 | +Info |
| CMT disease:Screening frequent mutations in Gypsie populations | Detection of mutations:p.C737X and p.R1109X inSH3TC2 gene, p.R148X in NDRG1 gene andc.-40237G>C in HK1 gene | 42 days | LV1555 | +Info |
| MTHFR deficiency | Detection of polymorphism A222Vin the MTHFR gene | 28 days | LV0052 | +Info |
| Common test of all diseases | Detection of specific mutations | 28 days | LV0051 | +Info |
| Achondroplasia | Detection of the 1138G>A, 1138G>C and 1123G>Tmutations in the FGFR3 gene | 28 days | LV0048 | +Info |
| Hyperprothrombinemia | Detection of the 20210GaA mutation in the F2gene | 28 days | LV0218 | +Info |
| 22q11.2 Microdeletion (DiGeorge, velocardiofacial syndromes) | Detection of the 22q11.2 deletion by MLPA | 28 days | LV1690 | +Info |
| Gilbert syndrome | Detection of the A(TA)7TAA allele in the UGT1A1 gene promotor | 28 days | LV0511 | +Info |
| Hereditary Breast and Ovarian Cáncer | Detection of the c.156_157insAlu mutation in the BRCA2 gene | 28 days | LV4126 | +Info |
| Huntington disease | Detection of the CAG expansion in the HTT gene | 28 days | LV0207 | +Info |
| Steinert Myotonic Dystrophy (DM1) | Detection of the CTG expansion in the DMPK geneby TP-PCR | 28 days | LV0193 | +Info |
| Steinert Myotonic Dystrophy (DM1) | Detection of the CTG expansionin the DMPKgene by Southern-Blot | 84 days | LV3746 | +Info |
| Nonsyndromic Mitochondrial Hearing Loss and Deafness | Detection of the m.1555A>G mutation in the mitochondrial gene MT-RNR1 | 28 days | LV0249 | +Info |
| Creutzfeldt-Jakob disease | Detection of the octapeptide expansion P-H-G-G-G-W-G-Q in the PRNP gene | 35 days | LV3998 | +Info |
| Huntington disease-like 1 | Detection of the octapeptide expansion P-H-G-G-G-W-G-Q in the PRNP gene | 35 days | LV3998 | +Info |
| Congenital bilateral absence of vas deferens | Detection of the poli-T polymorphism, associated with male infertility | 28 days | LV1276 | +Info |
| Enfermedad Celiaca | Determination of risk haplotypes of HLA-DQA1 and HLA-DQB1 genes by MLPA (DQ2.2, DQ2.5, DQ7.5 and DQ8) | 28 days | LV4055 | +Info |
| Facioescapulohumeral Dystrophy, type I | Determination of the A/B variants + SSLP haplotype. Minimum 15ml EDTA blood | 70 days | LV4319 | +Info |
| Enfermedad Celiaca | Determination of the complete genotype of HLA-DQA1 and HLA-DQB1 genes by SSP | 42 days | LV4056 | +Info |
| Enfermedad Celiaca | Determination of the genotype HLA DQ2, DQ8 | 28 days | LV0195 | +Info |
| Enfermedad Celiaca | Determination of the Genotype HLA-DRB1 | 35 days | LV4158 | +Info |
| Gonadal Dysgenesis (XY Female) | Determination of the presence or absence of the SRY gene by PCR | 28 days | LV0226 | +Info |
| XX Male syndrome | Determination of the presence or absence of the SRY gene by PCR | 28 days | LV0226 | +Info |
| Clinical Exome Sequencing for diagnosis. | Directed CLINICAL EXOME up to 200 genes with diagnostic report (capture of 58Mb) | 42 days | LV4152 | +Info |
| Clinical Exome Sequencing for diagnosis. | Directed KEY EXOME up to 200 genes with diagnostic report (capture of 17Mb) | 42 days | LV4150 | +Info |
| DNA Extraction Kits | DNA Extration | Consult | LV0756 | +Info |
| Charcot-Marie-Tooth disease, type 1A | Duplication detection of the PMP22 gene by MLPA | 28 days | LV1461 | +Info |
| Neuropathy, Hereditary, with liability to Pressure Palsies (HNPP) | Duplication detection of the PMP22 gene by MLPA | 28 days | LV1461 | +Info |
| Lung Cáncer | EGFR Mutation screening by digital droplet PCR | 7 days | LV4291 | +Info |
| Solid tumor | EGFR Mutation screening by digital droplet PCR | 7 days | LV4291 | +Info |
| Muscular dystrophy, limb-girdle, type 2C | etection of large deletions and/or duplicationsIn SGCG gene by MLPA | 28 days | LV3285 | +Info |
| Polycythemia Vera | Exon 12 Sanger secuencing of the JAK2 gene | 28 days | LV3669 | +Info |
| Central Hypoventilation Syndrome, Congenital | Expansion detection in the PHOX2B gene | 28 days | LV2253 | +Info |
| Clinical Exome Sequencing for diagnosis. | Extension of Directed CLINICAL EXOME to CLINICAL EXOME with diagnostic report (capture of 58Mb) | 42 days | LV4132 | +Info |
| Clinical Exome Sequencing for diagnosis. | Extension of Directed KEY EXOME to Clinical KEY EXOME with diagnostic report (capture of 17Mb) | 42 days | LV4135 | +Info |
| Clinical Exome Sequencing for diagnosis. | Extension of exome analysis to relevantvariants located in research genes. | 42 days | LV3607 | +Info |
| Molecular Oncohematology | FLT3 Mutations | 21 days | LV0630 | +Info |
| Clinical Exome Sequencing for diagnosis. | Focus clinical Exome of patient, mother and father without report. | 28 days | LV4125 | +Info |
| Clinical Exome Sequencing for diagnosis. | Focus clinical Exome of patient, mother or father without report. | 28 days | LV4124 | +Info |
| Clinical Exome Sequencing for diagnosis. | Focus clinical Exome of patient, without report. | 28 days | LV4123 | +Info |
| Friedreich Ataxia | GAA Expansion detection in the FXN gene | 28 days | LV0032 | +Info |
| Molecular Oncohematology | gene by ddPCRQuantification of the V617F mutation in the JAK2 | 15 days | LV0634 | +Info |
| Telangiectasia ataxia | geneNGS and Sanger sequencing of theATM | 42 days | LV1015 | +Info |
| Genetic affiliation | Genetic counseling | Consult | LV1162 | +Info |
| Common test of all diseases | Genetic counseling consultation | Consult | LV0033 | +Info |
| Genetic affiliation | Genetic identification test: further study | Consult | LV0569 | +Info |
| Cardiovascular Risk | Genetic-clinical evaluation of cardiovascular risk | 35 days | LV4100 | +Info |
| Hepatitis C virus infection, response to therapy of | Genotyping of loci associated with responseto therapy | 42 days | LV1559 | +Info |
| Plasminogen activator inhibitor-1 deficiency | Genotyping of the 4G/5G polymorphism in the 5'UTR region of the SERPINE1 gene | 28 days | LV0531 | +Info |
| Alcohol sensitivity | Genotyping of the ALDH2*2. ADH1B*47Hisand ADH1C*349Ile polymorphisms | Consult | LV0736 | +Info |
| Alzheimer disease, Type 1 | Genotyping of the ApoE gene | 28 days | LV0039 | +Info |
| Alpha1-antitrypsin deficiency | Genotyping of the PI*Z and PI*S alleles of theSERPINA1 gene | 28 days | LV0720 | +Info |
| Spinocerebellar ataxia 36 | GGCCTG Expansion detection in the NOP56 gene | 35 days | LV2517 | +Info |
| Growth hormone deficiency, isolated, type IB | Growth hormone deficiency, isolated, type IB | Consult | LV2673 | +Info |
| Genetic Linkage Analysis | Haplotypes analysis (includes three familymembers and four genetic markers) | Consult | LV0036 | +Info |
| Alpha Thalassemia (Deletion type) | HBA1 and HBA2 genes by MLPADetection of deletions and duplications in the | 28 days | LV0810 | +Info |
| Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis | Hexanucleotide expansion detection in a noncoding region of the C9ORF72 gene | 42 days | LV1551 | +Info |
| Histocompatibility | High resolution HLA-A, B, C, DRB1, DQB1typing. | 42 days | LV3817 | +Info |
| Huntington disease | Indirect study of Huntington's disease in a family nucleus (up to 5 members) | 28 days | LV4177 | +Info |
| Karyotype in Amniotic fluid | 21 days | LV0043 | +Info |
| Clinical Exome Sequencing for diagnosis. | Key Exome reanalysis | Consult | LV4170 | +Info |
| Solid tumor | KRAS Mutation screeningby digital droplet PCR | 7 days | LV4298 | +Info |
| Paramyotonia congenita | Large deletion and duplication detection in the CACNA1S and SCN4A genes by MLPA | 28 days | LV3839 | +Info |
| Stargardt Syndrome | Large deletion and duplication detection in theABCA4 gene by MLPA | 35 days | LV3819 | +Info |
| CHARGE Syndrome | Large deletion and duplication detection in theCHD7 gene by MLPA | 35 days | LV3610 | +Info |
| Chondrosarcoma | Large deletion and duplication detection in theEXT1 and TRSP1 genes by MLPA | 35 days | LV3609 | +Info |
| Exostoses, hereditary multiple | Large deletion and duplication detection in theEXT1 and TRSP1 genes by MLPA | 35 days | LV3609 | +Info |
| Trichorhinophalangeal syndrome, type III | Large deletion and duplication detection in theEXT1 and TRSP1 genes by MLPA | 35 days | LV3609 | +Info |
| Trichorhinophalangeal syndrome, type I | Large deletion and duplication detection in theEXT1 and TRSP1 genes by MLPA | 35 days | LV3609 | +Info |
| Brachydactyly, type D and E; Syndactyly, type V; Synpolydactyly 1 | Large deletions and duplications detection in the GLI3 and HOXD13 genes by MLPA | 35 days | LV3615 | +Info |
| Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B; Polydactyly, preaxial, type IV | Large deletions and duplications detection in the GLI3 and HOXD13 genes by MLPA | 35 days | LV3615 | +Info |
| X-linked agammaglobulinemia | Large deletions and duplications detection in theBTK gene by MLPA | 35 days | LV3492 | +Info |
| Familial cancer susceptibility | Large deletions and duplications detection in theCHEK2 gene by MLPA | 35 days | LV3769 | +Info |
| Hyper IgE Syndrome | Large deletions and duplications detection in theDOCK8 and STAT3 genes by MLPA | 35 days | LV3539 | +Info |
| Congenital Catarcts | Large deletions and duplications detection in theGEMIN4 gene by MLPA | 35 days | LV3763 | +Info |
| Central Hypoventilation Syndrome, Congenital | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +Info |
| Medullary thyroid carcinoma | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +Info |
| Multiple Endocrine Neoplasia, type 2 | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +Info |
| Pheochromocytoma | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +Info |
| Microphthalmia, syndromic 3 | Large deletions and duplications detection in theSOX2 gene by MLPA | 35 days | LV3468 | +Info |
| Optic nerve hypoplasia and abnormalities of the central nervous system | Large deletions and duplications detection in theSOX2 gene by MLPA | 35 days | LV3468 | +Info |
| Alzheimer disease, Type 1 | Large deletions and duplications detectionin the PSEN1, PSEN2 and APP genes by MLPA | 35 days | LV3747 | +Info |
| Alzheimer disease, Type 3 | Large deletions and duplications detectionin the PSEN1, PSEN2 and APP genes by MLPA | 35 days | LV3747 | +Info |
| Alzheimer disease, Type 4 | Large deletions and duplications detectionin the PSEN1, PSEN2 and APP genes by MLPA | 35 days | LV3747 | +Info |
| Cerebral Amyloid Angiopathy | Large deletions and duplications detectionin the PSEN1, PSEN2 and APP genes by MLPA | 35 days | LV3747 | +Info |
| Frontotemporal Dementia | Large deletions and duplications detectionin the PSEN1, PSEN2 and APP genes by MLPA | 35 days | LV3747 | +Info |
| Pick disease | Large deletions and duplications detectionin the PSEN1, PSEN2 and APP genes by MLPA | 35 days | LV3747 | +Info |
| Multiple Endocrine Neoplasia type I | Large deletions and duplications detections in the MEN1 and AIP genes by MLPA | 28 days | LV3481 | +Info |
| Pituitary adenoma | Large deletions and duplications detections in the MEN1 and AIP genes by MLPA | 28 days | LV3481 | +Info |
| Achondrogenesis, type II or hypochondrogenesis | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| Avascular necrosis of the femoral head | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| Czech dysplasia | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| Epiphyseal dysplasia, multiple, with myopia and deafness | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| Kniest dysplasia | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| Legg-Calve-Perthes disease | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| Osteoarthritis with mild chondrodysplasia | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| Platyspondylic skeletal dysplasia, Torrance type | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| SED congenita | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| SMED Strudwick type | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| Spondyloperipheral dysplasia | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| Stickler sydrome, type I, nonsyndromic ocular | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| Stickler type I Syndrome (achondrogenesis type I) | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| Hereditary Breast and Ovarian Cáncer | MAMMA GeneProfile: NGS and screening of deletions / duplications in the BRCA1 and BRCA2 genes. Sanger sequencing confirmation of pathological variants and MLPA confirmation of genomic rearrangements previously detected. | 28 days | LV1353 | +Info |
| Metagenómica 16S-fDNA PCR/Fusion primers | Consult | LV1081 | +Info |
| Pseudohypoparathyroidism Ib | Methylation analysis and detectionof deletions and/or duplicationsin 20q13.32 GNAS region by MLPA | 35 days | LV2915 | +Info |
| Beckwith-Wiedemann syndrome | Methylation analysis in the 11p15 region, H19, IGF2, CDKN1C, KCNQ1 by MLPA | 42 days | LV2104 | +Info |
| Russell-Silver, Syndrome | Methylation analysis in the 11p15 region, H19, IGF2, CDKN1C, KCNQ1 by MLPA | 42 days | LV2104 | +Info |
| Angelman syndrome | Methylation study in the PWS/AS genomic region and duplications, by MS-MLPA | 42 days | LV1464 | +Info |
| Prader-Willi syndrome | Methylation study in the PWS/AS genomic region and duplications, by MS-MLPA | 42 days | LV1464 | +Info |
| Mental retardation autosomal dominant 1 | Microdeletions detection in the 2q23.1 region byMLPA | 35 days | LV3750 | +Info |
| Colorectal cancer, hereditary nonpolyposis, type 2 | Microsatellite instability analysis | 28 days | LV0181 | +Info |
| Juvenile Polyposis Syndrome | MLPA detection of large deletions and duplications in the SMAD4 and BMPR1A genes | 28 days | LV1354 | +Info |
| Molecular Oncohematology | Molecular detection AML1/ETO rearrangement | 21 days | LV0639 | +Info |
| Molecular Oncohematology | Molecular detection Bcl-2rearrangement, MBR region | 28 days | LV0916 | +Info |
| Molecular Oncohematology | Molecular detection CBFB/MYH11 rearrangement | 21 days | LV0629 | +Info |
| Molecular Oncohematology | Molecular detection IGH rearrangement | 21 days | LV0625 | +Info |
| Molecular Oncohematology | Molecular detection PML/RARA rearrangement | 21 days | LV0628 | +Info |
| Molecular Oncohematology | Molecular detection TCR rearrangement(Beta y Gamma) | 21 days | LV0626 | +Info |
| Usher Syndrome and Non-Syndromic Deafness | Mutation panel in genes ADGRV1, CDH23CLRN1, DFNB31, MYO7A, PCDH15, USH1C,USH1G, USH1G | 84 days | LV1297 | +Info |
| Bruck Syndrome 2 | Next Generation Sequencing and Sanger Sequencing of the PLOD2 gene | 42 days | LV1338 | +Info |
| Cutis Laxa autosomal dominant | Next Generation Sequencing and Sanger Sequencing of the ELN gene | 42 days | LV1494 | +Info |
| Supravalvular Aortic Stenosis | Next Generation Sequencing and Sanger Sequencing of the ELN gene | 42 days | LV1494 | +Info |
| Brugada syndrome | Next Generation Sequencing and Sanger Sequencing of the SCN5A gene | 42 days | LV1581 | +Info |
| Long QT syndrome | Next Generation Sequencing and Sanger Sequencing of the SCN5A gene | 42 days | LV1581 | +Info |
| Cardiomyopathy, dilated | Next Generation Sequencing and Sanger Sequencing of the ACTN2 gene | 28 days | LV1430 | +Info |
| Familial Cardiomyopathy | Next Generation Sequencing and Sanger Sequencing of the ACTN2 gene | 28 days | LV1430 | +Info |
| Fibrochondrogenesis | Next Generation Sequencing and Sanger Sequencing of the COL11A1 gene | 28 days | LV0950 | +Info |
| Marshall syndrome | Next Generation Sequencing and Sanger Sequencing of the COL11A1 gene | 28 days | LV0950 | +Info |
| Stickler type I Syndrome (achondrogenesis type I) | Next Generation Sequencing and Sanger Sequencing of the COL11A1 gene | 28 days | LV0950 | +Info |
| Deafness, Autosomal Recessive 53 | Next Generation Sequencing and Sanger Sequencing of the COL11A2 gene | 42 days | LV1448 | +Info |
| Fibrochondrogenesis 2 | Next Generation Sequencing and Sanger Sequencing of the COL11A2 gene | 42 days | LV1448 | +Info |
| Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant type 13 | Next Generation Sequencing and Sanger Sequencing of the COL11A2 gene | 42 days | LV1448 | +Info |
| Otospondylomegaepiphyseal dysplasia | Next Generation Sequencing and Sanger Sequencing of the COL11A2 gene | 42 days | LV1448 | +Info |
| Stickler syndrome, type III | Next Generation Sequencing and Sanger Sequencing of the COL11A2 gene | 42 days | LV1448 | +Info |
| Weissenbacher-Zweymuller syndrome | Next Generation Sequencing and Sanger Sequencing of the COL11A2 gene | 42 days | LV1448 | +Info |
| Ehlers-Danlos syndrome type 1 | Next Generation Sequencing and Sanger Sequencing of the COL5A2 gene | Consult | LV0728 | +Info |
| EBD inversa | Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene | 42 days | LV1211 | +Info |
| EBD, Bart type | Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene | 42 days | LV1211 | +Info |
| Epidermolysis Bullosa Dystrophica AD | Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene | 42 days | LV1211 | +Info |
| Epidermolysis bullosa dystrophica, AR | Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene | 42 days | LV1211 | +Info |
| Epidermolysis bullosa pruriginosa | Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene | 42 days | LV1211 | +Info |
| Epidermolysis bullosa, pretibial | Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene | 42 days | LV1211 | +Info |
| Toenail dystrophy, isolated | Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene | 42 days | LV1211 | +Info |
| Transient Bullous Dermolysis of the Newborn | Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene | 42 days | LV1211 | +Info |
| Congenital contractural arachnodactyly (Beals Syndrome) | Next Generation Sequencing and Sanger Sequencing of the FBN2 | 42 days | LV1435 | +Info |
| Glycogen Storage Disease Type II (Pompe Disease) | Next Generation Sequencing and Sanger Sequencing of the GAA gene | 42 days | LV1149 | +Info |
| Pseudohypoparathyroidism Type IA / Pseudopseudohypoparathyroidism | Next Generation Sequencing and Sanger Sequencing of the GNAS gene | 28 days | LV1427 | +Info |
| Cardiomyopathy, dilated | Next Generation Sequencing and Sanger Sequencing of the MYBPC3 gene | 28 days | LV1437 | +Info |
| Familial Cardiomyopathy | Next Generation Sequencing and Sanger Sequencing of the MYBPC3 gene | 28 days | LV1437 | +Info |
| Epstein syndrome | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| Fechtner syndrome | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| Macrothrombocytopenia and progressive sensorineural deafness | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| May-Hegglin anomaly | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| Sebastian syndrome | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| Aortic valve disease | Next Generation Sequencing and Sanger Sequencing of the NOTCH1 gene | 42 days | LV1086 | +Info |
| Amyotrophic lateral sclerosis 4, juvenile | Next Generation Sequencing and Sanger Sequencing of the SETX gene | 42 days | LV1357 | +Info |
| Ataxia-oculomotor apraxia 2 | Next Generation Sequencing and Sanger Sequencing of the SETX gene | 42 days | LV1357 | +Info |
| Deafness, nonsyndromic sensorineural autosomal recessive type 21 | Next Generation Sequencing and Sanger Sequencing of the TECTA gene | 28 days | LV1451 | +Info |
| Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant 8/12 | Next Generation Sequencing and Sanger Sequencing of the TECTA gene | 28 days | LV1451 | +Info |
| Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficie | Next Generation Sequencing and Sanger Sequencing of the TNXB gene | 42 days | LV0925 | +Info |
| Ehlers-Danlos Syndrome, type III | Next Generation Sequencing and Sanger Sequencing of the TNXB gene | 42 days | LV0925 | +Info |
| Autosomal Recessive and Sporadic Retinitis Pigmentosa | Next Generation Sequencing and Sanger Sequencing of the USH2A gene | 42 days | LV1446 | +Info |
| Usher Syndrome Type 2A | Next Generation Sequencing and Sanger Sequencing of the USH2A gene | 42 days | LV1446 | +Info |
| Cardiomyopathy, dilated | Next Generation Sequencing and Sanger Sequencing of the VCL gene | 28 days | LV1443 | +Info |
| Familial Cardiomyopathy | Next Generation Sequencing and Sanger Sequencing of the VCL gene | 28 days | LV1443 | +Info |
| Cleidocranial dysplasia and isolated cranial ossification defects group: Cleidocranial dysplasia, Parietal foramina | Next Generation Sequencing of gene panel: ALX4, MSX2, RUNX2. | 42 days | LV2234 | +Info |
| Osteogenesis Imperfecta and decreased bone density group: Osteogenesis imperfecta AD and AR (EMQN) | Next Generation Sequencing of 10 gene panel: COL1A1, COL1A2, CRTAP, FKBP10, P3H1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7. | 42 days | LV2224 | +Info |
| Nonobstructive Hypertrophic Cardiomyopathy | Next Generation Sequencing of 13 gene panel: ACTC1, GLA, LAMP2, LDB3, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1. | 42 days | LV1516 | +Info |
| Nonobstructive Hypertrophic Cardiomyopathy | Next Generation Sequencing of 13 gene panel:ACTC1, GLA, LAMP2,LDB3, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, and detections of deletions and/or duplications in the GLA, MYBPC3 and TNNT2 genes by MLPA | 42 days | LV1517 | +Info |
| Ehlers-Danlos syndrome, occipital horn type, Menkes syndrome and . Cardiac valvular dysplasia, X-linked, | Next Generation Sequencing of 2 gene panel: ATP7A, FLNA | 42 days | LV2179 | +Info |
| Epidermólisis distrófica ampollosa, pruriginosa, pretibial y tipo Barth, AD. Epidermólisis ampollosa juntural y tipos no-Herlitz, inversa, AR y Dermólisis ampollosa transitoria del recién | Next Generation Sequencing of 2 gene panel: COL17A1, COL7A1. | 42 days | LV2191 | +Info |
| Osteogenesis Imperfecta, type III | Next Generation Sequencing of 2 gene panel: COL1A1, COL1A2 | 42 days | LV2260 | +Info |
| Osteogenesis Imperfecta, type II | Next Generation Sequencing of 2 gene panel: COL1A1, COL1A2 | 42 days | LV2260 | +Info |
| Osteogenesis Imperfecta, type IV | Next Generation Sequencing of 2 gene panel: COL1A1, COL1A2 | 42 days | LV2260 | +Info |
| Fetal akinesia deformation sequence, | Next Generation Sequencing of 2 gene panel: DOK7, RAPSN | 42 days | LV2183 | +Info |
| Osteoporosis-pseudoglioma syndrome, Geroderma osteodysplasticum | Next Generation Sequencing of 2 gene panel: GORAB, LRP5. | 42 days | LV2227 | +Info |
| Spondyloepiphyseal dysplasia tarda with progressive arthropathy, AR, Spondyloepiphyseal dysplasia tarda, X-linked | Next Generation Sequencing of 2 gene panel: TRAPPC2, WISP3. | 42 days | LV2194 | +Info |
| Frontometaphyseal dysplasia | Next Generation Sequencing of 2 gene panel: ALX3 and ALX4 | 42 days | LV1582 | +Info |
| Frontometaphyseal dysplasia | Next Generation Sequencing of 2 gene panel: ALX3 and ALX4 and detection of large deletions and/or duplications in the ALX1, ALX3 & ALX4 genes by MLPA | 42 days | LV1583 | +Info |
| Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia group: Epiphyseal dysplasia, multiple (MED), type 4, AR, MED with early-onset diabetes mellitus, AR. | Next Generation Sequencing of 2 gene panel: EIF2AK3, SLC26A2. | 42 days | LV2208 | +Info |
| Bruck syndrome types 1, 2. (BS1, BS2). | Next Generation Sequencing of 2 gene panel: FKBP10, PLOD2. | 42 days | LV2228 | +Info |
| Atelosteogenesis, type I, III, AD, Atelosteogenesis II AR, De la Chapelle dysplasia. | Next Generation Sequencing of 2 gene panel: FLNB, SLC26A2 | 42 days | LV2200 | +Info |
| Jervell-Lange-Nielsen syndrome | Next Generation Sequencing of 2 gene panel: KCNE1, KCNQ1. | 42 days | LV1545 | +Info |
| Coronary Arteries Disease | Next Generation Sequencing of 2 gene panel: LRP6, MEF2A | 42 days | LV1288 | +Info |
| Weill-Marchesani 1, recessive & Weill-Marchesani-like syndrome, Geleophysic dysplasia 1. | Next Generation Sequencing of 3 gene panel: ADAMTS10, ADAMTS17, ADAMTSL2. | 42 days | LV2186 | +Info |
| Osteogenesis imperfecta AD, Caffey disease, Osteogenesis imperfecta with unusual skeletal lesions | Next Generation Sequencing of 3 gene panel: ANO5, COL1A1, COL1A2. | 42 days | LV2225 | +Info |
| Acromesomelic dysplasias: Acromesomelic dysplasia types Maroteaux, Hunter-Thompson, Grebe dysplasia, Fibular hypoplasia and complex brachydactyly (Du Pan), Acromesomelic dysplasia with genital | Next Generation Sequencing of 3 gene panel: BMPR1B, GDF5, NPR2 | 42 days | LV2213 | +Info |
| Avascular necrosis of the femoral head, AD, Ossification of posterior longitudinal ligament of spine AR, Acrocapitofemoral dysplasia AR, Legg-Calve-Perthes disease | Next Generation Sequencing of 3 gene panel: COL2A1, ENPP1, IHH. | 42 days | LV2192 | +Info |
| 3MC types 1 and 2; Craniofacial-deafness-hand syndrome, Waardenburg type 3. | Next Generation Sequencing of 3 gene panel: COLEC11, MASP1, PAX3. | 42 days | LV2188 | +Info |
| Slender bone dysplasia group: 3-M syndrome 1, 2, Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2; Majewski type) | Next Generation Sequencing of 3 gene panel: CUL7, OBSL1, PCNT. | 42 days | LV2217 | +Info |
| Filamin group and related disorders: Frontometaphyseal dysplasia, Atelosteogenesis 1, 3, FG 2, Melnick-Needles, Larsen, Frank-ter Haar syndromes , Otopalatodigital t | Next Generation Sequencing of 3 gene panel: FLNA, FLNB, SH3PXD2B. | 42 days | LV2203 | +Info |
| Patellar dysostoses: Nail-patella syndrome, Small patella syndrome, Small patella - like syndrome with clubfoot | Next Generation Sequencing of 3 gene panel: LMX1B, PITX1, TBX4. | 42 days | LV2238 | +Info |
| Hearing loss secondary to kidney diseases | Next Generation Sequencing of 3 gene panel: BSND, GATA3, MYH9. | 42 days | LV1544 | +Info |
| Multiple pterygium syndrome, lethal type and Escobar syndrome | Next Generation Sequencing of 3 gene panel: CHRNA1, CHRND, CHRNG | 42 days | LV1677 | +Info |
| Trichodontoosseous syndrome, Odontoonychodermal dysplasia AR, Hajdu-Cheney syndrome o Arthrodentoosteodysplasia, Schopf-Schulz-Passarge syndrome | Next Generation Sequencing of 3 gene panel: DLX3, NOTCH2, WNT10A | 42 days | LV2187 | +Info |
| Long QT related to Andersen, Timothy & Jervell and Lange-Nielsen disea | Next Generation Sequencing of 3 gene panel: KCNJ2, CACNA1C, KCNQ1 | 42 days | LV1528 | +Info |
| Acromelic dysplasias: Acrocapitofemoral dysplasia, Geleophysic dysplasia, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, 4. | Next Generation Sequencing of 4 gene panel: ADAMTSL2, IHH, WDR19, WDR35. | 42 days | LV2212 | +Info |
| Severe polymalformative disorders: Bohring-Opitz syndrome AD, Rothmund-Thomson syndrome, Microcephalic osteodysplastic primordial dwarfism, type I, Microphthalmia, syndromic 3. | Next Generation Sequencing of 4 gene panel: ASXL1, RECQL4, RNU4ATAC, SOX2 | 42 days | LV2189 | +Info |
| Sulphation disorders group: Achondrogenesis 1B, Atelosteogenesis 2, Diastrophic dysplasia, Multiple Epiphyseal dysplasia, Spondyloepimetaphyseal dysplasia, Larsen and Ehlers-Danlos musculo-co | Next Generation Sequencing of 4 gene panel: CHST14, CHST3, PAPSS2, SLC26A2 | 42 days | LV2201 | +Info |
| Increased bone density group (without modification of bone shape), Autosomal dominant: Osteopetrosis late-onset form type 2, Osteopetrosis, late-onset form type 1 (OPT | Next Generation Sequencing of 4 gene panel: CLCN7, FAM123B, LEMD3, LRP5. | 42 days | LV2221 | +Info |
| Neonatal osteosclerotic dysplasias: Raine syndrome, Blomstrand dysplasia, Caffey disease (including infantile and attenuated forms), Chondrodysplasia, Grebe type | Next Generation Sequencing of 4 gene panel: COL1A1, FAM20C, GDF5, PTH1R. | 42 days | LV2220 | +Info |
| Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism, Amelogenesis imperfecta, types IB, 3, Amelogenesis imperfecta, hypomaturation type, IIA3 AD | Next Generation Sequencing of 4 gene panel: DLX3, ENAM, FAM83H, WDR72 | 42 days | LV2197 | +Info |
| Asphyxiating thoracic dysplasia (ATD; Jeune) types 2, 3, 4, 5. | Next Generation Sequencing of 4 gene panel: DYNC2H1, IFT80, TTC21B, WDR19. | 42 days | LV2206 | +Info |
| Craniosynostosis syndromes: Baller-Gerold syndrome, Robinow-Sorauf syndrome, Saethre-Chotzen syndrome with eyelid anomalies, Saethre-Chotzen syndrome, Pfeiffer 1 syndrome, Craniosynostosis Bo | Next Generation Sequencing of 4 gene panel: IL11RA, MSX2, RECQL4, TWIST1. | 42 days | LV2235 | +Info |
| Spondyloepiphyseal dysplasias (SED) AD, types: Kimberley; SED with congenital joint dislocations. SED with precocious osteoarthritis; SED congénita, SED Maroteaux, Spondy | Next Generation Sequencing of 4 gene panel: ACAN, CHST3, COL2A1, TRPV4. | 42 days | LV2193 | +Info |
| Alport syndrome types AD, AR, X-Linked, Hematuria, benign familial, Leiomyomatosis, diffuse, with Alport syndrome, | Next Generation Sequencing of 4 gene panel: COL4A3, COL4A4, COL4A5, COL4A6. | 42 days | LV2190 | +Info |
| Dentinogenesis imperfecta, Shields type II, III, Dentin dysplasia, type II, Failure of tooth eruption, primary, Tooth agenesis, selective, 4, AD, Tooth agenesis, select | Next Generation Sequencing of 4 gene panel: DSPP, MSX1, PTH1R, WNT10A. | 42 days | LV2199 | +Info |
| Bicuspid aortic valve and Arterial tortuosity | Next Generation Sequencing of 4 gene paneL: EFEMP2, FBLN5, NOTCH1, SLC2A10 | 42 days | LV1481 | +Info |
| Amelogenesis imperfecta, type IC, IIA1, IIA2, Amelogenesis imperfecta and gingival fibromatosis syndrome, AR | Next Generation Sequencing of 4 gene panel: ENAM, FAM20A, KLK4, MMP20 | 42 days | LV2198 | +Info |
| Mesomelic and rhizo-mesomelic dysplasias: Leri-Weill dyschondrosteosis, Madelung wrist deformity, Langer type, Omodysplasia, Meier-Gorlin syndrome 1, Robinow syndrome, autosomal recessive | Next Generation Sequencing of 4 gene panel: GPC6, ORC1, ROR2, SHOX. | 42 days | LV2214 | +Info |
| Limb hypoplasia reduction defects group: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; Orofacial cleft 5, 8; Split-hand/foot malformation 4, 6; Ac | Next Generation Sequencing of 4 gene panel: LMBR1, TP63, WNT3, WNT10B. | 42 days | LV2242 | +Info |
| Dysplasias with multiple joint dislocations: Desbuquois dysplasia, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Spondyloepiphyseal dysplasia with congenital joint | Next Generation Sequencing of 5 gene panel: B3GAT3, CANT1, CHST3, FLNB, PRG4. | 42 days | LV2218 | +Info |
| Marshall syndrome, Weissenbacher-Zweymuller syndrome, Knobloch syndrome, type 1, Kniest dysplasia, Wagner syndrome 1, | Next Generation Sequencing of 5 gene panel: COL11A1, COL11A2, COL2A1, COL18A1, VCAN | 42 days | LV2185 | +Info |
| Achondrogenesis, type II or hypochondrogenesis, Achondrogenesis IA, IB, Fibrochondrogenesis, autosomal recessive. | Next Generation Sequencing of 5 gene panel: COL11A1, COL11A2, COL2A1, SLC26A2, TRIP11. | 42 days | LV2196 | +Info |
| Brain small vessel disease with hemorrhage. Angiopathy, hereditary, with nephropathy, aneurysms. and Porencephaly, Bone fragility with contractures, arterial rupture and deafness o Lysyl hy | Next Generation Sequencing of 5 gene panel: COL4A1, GLMN, PLOD3, SLC2A10, SMAD3 | 42 days | LV2176 | +Info |
| Arthrogryposis, renal dysfunction, and cholestasis 1, 2 AR. Arthrogryposis, lethal, with anterior horn cell disease. Lethal congenital contracture syndrome 1, Myosclerosis, | Next Generation Sequencing of 5 gene panel: COL6A2, GLE1, PLOD3, VIPAS39, VPS33B | 42 days | LV2182 | +Info |
| Cutis laxa 1,2 AD, Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities. Cutis laxa, AR, type IB, IA, IIB, IIIB. | Next Generation Sequencing of 5 gene panel: EFEMP2, ELN, FBLN5, LTBP4, PYCR1 | 42 days | LV2180 | +Info |
| Brachydactyly, types A1, A2, B1, B2, C, D, E, AD. Brachydactyly-syndactyly syndrome. | Next Generation Sequencing of 5 gene panel: ESCO2, RECQL4, TP63, TBX15, WNT7A | 42 days | LV2241 | +Info |
| Abnormal mineralization group: Nephrolithiasis / osteoporosis, hypophosphatemic, 1, 2 , Fanconi renotubular syndrome 2, Chondrocalcinosis 2 AD, Metaphyseal dysplasia, Jansen and Eiken types | Next Generation Sequencing of 5 gene panel: ANKH, AMER1, PTH1R, SLC34A1, SLC9A3R1. | 42 days | LV2229 | +Info |
| Brachydactylies (with or without extraskeletal manifestations): Temtamy preaxial brachydactyly syndrome, Guttmacher syndrome, Hand-foot-uterus syndrome, Keutel syndrome, Albrig | Next Generation Sequencing of 5 gene panel: CHSY1, GNAS, HOXA13, MGP, SOX9. | 42 days | LV2239 | +Info |
| Metaphyseal dysplasias: Metaphyseal dysplasia, Schmid type, Jansen type, Eiken dysplasia, Cartilage-hair hypoplasia (CHH; metaphyseal dysplasia, McKusick type), Metaphyseal a | Next Generation Sequencing of 5 gene panel: COL10A1, MMP13, MMP9, PTH1R, RMRP | 42 days | LV2209 | +Info |
| Leukoencephalopathy with vanishing white matter and Ovarioleukodystrophy | Next Generation Sequencing of 5 gene panel: EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5. | 42 days | LV1640 | +Info |
| Dysostoses with predominant vertebral with and without costal involvement: Diaphanospondylodysostosis, Klippel-Feil syndrome 1, autosomal dominant, Spondylocostal dysostosis t | Next Generation Sequencing of 6 gene panel: BMPER, DLL3, GDF6, HES7, LFNG, MESP2. | 42 days | LV2237 | +Info |
| Severe spondylodysplastic dysplasias: Chondrodysplasia, lethal neonatal, with snail-like pelvis o Schneckenbecken dysplasia, Achondrogenesis 1A , Achondrogenesis 2, Platyspo | Next Generation Sequencing of 6 gene panel: COL11A1, COL2A1, SLC26A2, SLC35D1, TRIP11, TRPV4. | 42 days | LV2211 | +Info |
| Ehlers-Danlos syndrome, type I, II, III, IV, VIIA, VIIB, autosomal dominant, E-D hypermobility type, AD. | Next Generation Sequencing of 6 gene panel: COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB. | 42 days | LV2177 | +Info |
| Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia group: Pseudoachondroplasia, MED type 1, 2, 3, 5, 6, Stickler syndrome. | Next Generation Sequencing of 6 gene panel: COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3. | 42 days | LV2207 | +Info |
| Defects in joint formation and synostoses: Multiple synostoses syndrome type 1, 2, 3. Proximal symphalangism type 1, 2. Radio-ulnar synostosis with amegakaryocytic thromb | Next Generation Sequencing of 6 gene panel: FGF9, FLNB, GDF5, HOXA11, NOG, TTR. | 42 days | LV2244 | +Info |
| Frontonasal dysplasia 1, 2 & Craniofrontonasal dysplasia AD, AR, LX., Frontometaphyseal dysplasia, Craniometaphyseal dysplasia AD, Craniodiaphyseal dysplasia, autosomal dominant. | Next Generation Sequencing of 6 gene panel: ALX3, ALX4, ANKH, EFNB1, FLNA, SOST. | 42 days | LV2195 | +Info |
| Disorganized development of skeletal components group: Multiple cartilaginous exostoses 1, 2. Fibrous dysplasia, polyostotic form, Progressive osseous heteroplasia, Osteoglop | Next Generation Sequencing of 6 gene panel: ANO5, EXT1, EXT2, FGFR1, GNAS, SH3BP2 | 42 days | LV2232 | +Info |
| Cardiomyopathy with cardiac conduction disease related to Myofibrill | Next Generation Sequencing of 6 gene panel: BAG3, CRYAB, DES, FLNC, LDB3, MYOT. | 42 days | LV1508 | +Info |
| Brain small vessel disease with hemorrhage. Angiopathy, hereditary, with nephropathy, aneurysms. and Porencephaly, Bone fragility with contractures, arterial rupture and deafness o Lysyl hy | Next Generation Sequencing of 6 gene panel: COL4A1, GLMN, PLOD3, SLC2A10, SMAD3, RASA1 | 42 days | LV3111 | +Info |
| Polydactyly-Syndactyly-Triphalangism group: Greig cephalopolysyndactyly; Pallister-Hall syndromes, Cenani-Lenz syndactyly, Preaxial polydactyly types 2, 4; Polydactyly, postaxial | Next Generation Sequencing of 6 gene panel: GLI3, HOXD10, HOXD13, LMBR1, LRP4, PITX1. | 42 days | LV2243 | +Info |
| Arthrogryposis, distal, autosomal dominant | Next Generation Sequencing of 6 gene panel: MYBPC1, MYH3, MYH8, TNNI2, TNNT3, TPM2 | 42 days | LV1681 | +Info |
| Arthrogryposis, distal, types 1B, 2A, 2B, 7. Arthrogryposis multiplex congenita, distal, types 1A, 2B, AD, Carney complex variant. | Next Generation Sequencing of 6 gene panel: MYBPC1, MYH3, MYH8, TNNI2, TNNT3, TPM2 | 42 days | LV1681 | +Info |
| Stickler syndrome, types I, II, III, AD, Stickler syndrome, type I, nonsyndromic, ocular, Stickler syndrome, type IV, V AR, | Next Generation Sequencing of 6 gene panel:COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3 | 42 days | LV3811 | +Info |
| Brachydactyly, types A1, A2, B1, B2, C, D, E, AD. Brachydactyly-syndactyly syndrome. | Next Generation Sequencing of 7 gene panel: BMPR1B, GDF5, HOXD13, IHH, NOG, PTHLH, ROR2. | 42 days | LV2240 | +Info |
| Genetic inflammatory/rheumatoid-like osteoarthropathies: Multifocal osteomyelitis with dyserythropoietic anemia (Majeed syndrome); Sterile multifocal osteomyelitis, periostiti | Next Generation Sequencing of 7 gene panel: ACAN, COL2A1, HPGD, IL1RN, LPIN2, TRPV4, WISP3. | 42 days | LV2233 | +Info |
| Chondrodysplasia punctata (CDP) group: CDP, types 1, 2, 3; Greenberg dysplasia, autosomal recessive; CDP with joint dislocations, GRAPP type; CDP, brachytelephalangic | Next Generation Sequencing of 7 gene panel: AGPS, ARSE, EBP, GNPAT, IMPAD1, LBR, PEX7. | 42 days | LV2219 | +Info |
| Hypophosphatemic rickets (HR), XLD, HR with hypercalciuria, AD, HR, types 1, 2. HR Vitamin D-dependent rickets, type I, AR, Hypophosphatasia, Odontohypophosphat | Next Generation Sequencing of 7 gene panel: ALPL, CYP27B1, DMP1, ENPP1, FGF23, PHEX, SLC34A3. | 42 days | LV2230 | +Info |
| Bent bones dysplasias: Stuve-Wiedemann / Schwartz-Jampel 2, Silverman-Handmaker, Rolland-Desbuquois, Schwartz-Jampel, syndromes. Campomelic dysplasia, Cartilage-hair hypoplasia, Hypophosphat | Next Generation Sequencing of 7 gene panel: ALPL, GHR, GHSR, HSPG2, LIFR, RMRP, SOX9. | 42 days | LV2216 | +Info |
| Increased bone density group with metaphyseal and/or diaphyseal involvement: Diaphyseal dysplasia Camurati-Engelmann; Craniometaphyseal dysplasia; Hypertrophic osteoarthropathy; | Next Generation Sequencing of 7 gene panel: ANKH, DLX3, HPGD, LRP4, SOST, TGFB1, TNFRSF11B. | 42 days | LV2223 | +Info |
| Osteolysis group: Familial expansile osteolysis, Torg-Winchester syndrome, Nasu-Hakola disease, Nestor-Guillermo progeria syndrome, Acrosteolysis neurogenic, Paget disease, | Next Generation Sequencing of 7 gene panel: BANF1, MMP2, SQSTM1, TNFRSF11A, TREM2, TYROBP,WNK1, | 42 days | LV2231 | +Info |
| Short-ribs dysplasias (with or without polydactyly) group (SRPS): Chondroectodermal dysplasia (Ellis-van Creveld), SRPS typeS 1/3, (Saldino-Noonan/Verma-Naumoff), II, III, V. | Next Generation Sequencing of 7 gene panel: DYNC2H1, EVC, EVC2, GLI2, IFT80, NEK1, WDR35. | 42 days | LV2205 | +Info |
| Short stature related with Pituitary hormone deficiency, combined, Growth hormone deficiency with pituitary anomalies, Laron dwarfism. | Next Generation Sequencing of 7 gene panel: GHR, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1. | 42 days | LV2215 | +Info |
| Increased bone density group (without modification of bone shape), Autosomal recessive: Buschke-Ollendorff syndrome or osteopoikilosis with melorheostosis, Osteopetrosis, sev | Next Generation Sequencing of 7 gene panel:CA2, CLCN7, OSTM1, PLEKHM1, TCIRG1, TNFRSF11A, TNFSF11. | 42 days | LV2222 | +Info |
| Ehlers-Danlos syndrome, types VI, VIB, VIIC, E-D musculocontractural type, E-D cardiac valvular form, E-D syndrome-like, E-D, due to tenascin X deficiency, autosomal recessive, Homocystinur | Next Generation Sequencing of 8 gene panel: ADAMTS2, CHST14, CBS, COL1A2, PLOD1, SLC39A13, TNXB, ZNF469. | 42 days | LV2178 | +Info |
| Dysostoses with predominant craniofacial involvement: Frontonasal dysplasia, 1, 2. Miller syndrome (postaxial acrofacial dysostosis). Craniofrontonasal or Treacher Collins sy | Next Generation Sequencing of 8 gene panel: ALX3, ALX4, DHODH, EFNB1, EVC, EVC2, POLR1C, TCOF1. | 42 days | LV2236 | +Info |
| Next Generation Sequencing of 8 gene panel: COL2A1, DYM, DDR2, EIF2AK3, MATN3, NKX3-2, SLC39A13, TRAPPC2. | 42 days | LV2210 | +Info |
| Custom Panel | Next-Generation Sequencing and raw data delivery through Genesys | 14 days | LV2538 | +Info |
| Alport syndrome, autosomal recessive | NGS + Sanger sequencing of the COL4A3 gene | 42 days | LV2890 | +Info |
| Alport syndrome | NGS + Sanger sequencing of the COL4A4 gene | 42 days | LV2892 | +Info |
| Alport Syndrome, X-linked | NGS + Sanger sequencing of the COL4A5 gene | 42 days | LV2889 | +Info |
| Leiomyomatosis, diffuse, with Alport syndrome | NGS + Sanger sequencing of the COL4A6 gene | 42 days | LV2891 | +Info |
| Chediak-Higashi syndrome | NGS + Sanger Sequencing of the LYST gene | 42 days | LV3105 | +Info |
| Retinitis Pigmentosa | NGS and bioinformatic CNV screening of the ABCA4 gene | 35 days | LV4206 | +Info |
| Polycystic Kidney Disease, autosomal recessive | NGS and bioinformatic CNV screening of the PKHD1 gene | 42 days | LV4226 | +Info |
| Dravet syndrome | NGS and bioinformatic CNV screening of the SCN1A gene | 28 days | LV4184 | +Info |
| Epilepsy, generalized, with febrile seizures plus, type 3 | NGS and bioinformatic CNV screening of the SCN1A gene | 28 days | LV4184 | +Info |
| Febrile seizures, familial, 3A | NGS and bioinformatic CNV screening of the SCN1A gene | 28 days | LV4184 | +Info |
| Progressive external ophthalmoplegia, autosomal dominant | NGS and bioinformatic CNVs screening, 10-gene panel: DGUOK, DNA2, POLG, POLG2, RNASEH1, RRM2B, SLC25A4, TK2, TWNK, TYMP | 49 days | LV4277 | +Info |
| Sensory and autonomic neuropathy | NGS and bioinformatic CNVs screening, 10-gene panel: DST,IKBKAP,NGF,PRDM12,RETREG1,SCN11A,SCN9A,SPTLC1,SPTLC2,WNK1, | 49 days | LV4262 | +Info |
| Lipodystrophy | NGS and bioinformatic CNVs screening, 11-gene panel: AGPAT2,BSCL2,CAV1,CIDEC,LIPE,LMNA,LMNB2,PLIN1,PPARG,PSMB8,PTRF, | 49 days | LV4275 | +Info |
| Adenomatous polyposis, familial | NGS and bioinformatic CNVs screening, 12-gene panel:
APC, AXIN2, BRCA1, BRCA2, MLH1, MSH2, MSH6, MUTYH, NTHL1, POLD1, POLE, SCG5 | 42 days | LV4358 | +Info |
| Inherited ataxias X-linked | NGS and bioinformatic CNVs screening, 13-gene panel: ABCB7,ABCD1,ATP2B3,ATP7A,CASK,FMR1,MECP2,OPHN1,PLP1,PRPS1,RPL10,SLC16A2,SLC9A6, | 49 days | LV4240 | +Info |
| Pancreatic Cancer (Sd Peutz Jeghers, Pancreatitis) | NGS and bioinformatic CNVs screening, 13-gene panel: APC, ATM, BRCA1, BRCA2, CDKN2A, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53 |Sanger sequencing of the PRSS1 gene | 42 days | LV4354 | +Info |
| Pheochromocytoma / Paraganglioma | NGS and bioinformatic CNVs screening, 13-gene panel: EPAS1, FH, KIF1B, MAX, MDH2, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL | 42 days | LV4356 | +Info |
| Spastic paraplegias. | NGS and bioinformatic CNVs screening, 135-gene panel: ABHD12,ACP5,AFG3L2,AHDC1,ALS2,AMPD2,AP4B1,AP4E1,AP4M1,AP4S1,AP5Z1,ARL6IP1,ARSI,ASNS,ATL1,ATP13A2,ATP2B4,B4GALNT1,BSCL2,C12orf65,C19orf12,CAPN1,CCT5,COASY,CPT1C,CTNNB1,CYP27A1,CYP2U1,CYP7B1,DARS,DDHD1,DDHD2,DNA2,DSTYK,ECHS1,ELOVL4,ELP2,ENTPD1,ERLIN1,ERLIN2,EXOSC3,EXOSC8,FA2H,FARS2,FXN,GAD1,GALC,GAN,GBA2,GFAP,GJC2,GLB1,GM2A,GPT2,GRID2,HEXA,HSD17B4,HSPD1,IBA57,IFIH1,IFRD1,KCND3,KIDINS220,KIF1A,KIF1C,KIF5A,KLC2,L1CAM,L2HGDH,LRP4,LYST,MAG,MARS2,MCOLN1,MECP2,MTPAP,NADK2,NALCN,NIPA1,NPC1,NPC2,NT5C2,OPA1,OPA3,PEX16,PGAP1,PLA2G6,PLP1,PNPLA6,PRNP,PSEN1,REEP1,REEP2,RNASEH2B,RTN2,SACS,SCN8A,SETX,SLC16A2,SLC17A5,SLC1A4,SLC2A1,SLC33A1,SOD1,SPART,SPAST,SPG11,SPG21,SPG7,SPR,SPTAN1,STUB1,STXBP1,SYNE1,SYNJ1,TANGO2,TBCD,TECPR2,TFG,TSEN54,TTC19,TTPA,TTR,UCHL1,USP8,VAMP1,VPS37A,VWA3B,WARS2,WASHC5,WDR45B,WDR48,ZFR,ZFYVE26,ZFYVE27, | 49 days | LV4241 | +Info |
| Gastric Cáncer, diffuse | NGS and bioinformatic CNVs screening, 14-gene panel:
APC, BRCA1, BRCA2, CDH1, CHEK2, CTNNA1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS1, PMS2, TP53 | 42 days | LV4361 | +Info |
| Hereditary chorea | NGS and bioinformatic CNVs screening, 14-gene panel: ADCY5,ARSA,CARS2,COQ9,GLDC,GM2A,GNAO1,HTT,MRE11,NKX2-1,PNKD,SLC20A2,VPS13A,XK, | 49 days | LV4252 | +Info |
| Prostate Cáncer, hereditary | NGS and bioinformatic CNVs screening, 14-gene panel: ATM, BRCA1, BRCA2, CHEK2, HOXB13, MLH1, MSH2, MSH6, MSR1, NBN, PALB2, PMS2, RAD51D, TP53 | 42 days | LV4278 | +Info |
| Primary and secondary autonomic neuropathy | NGS and bioinformatic CNVs screening, 14-gene panel: CLTCL1,DST,IKBKAP,MEFV,NGF,NLRP3,NTRK1,PRDM12,RETREG1,SCN11A,SCN9A,SPTLC1,SPTLC2,WNK1, | 49 days | LV4267 | +Info |
| Migraines | NGS and bioinformatic CNVs screening, 15-gene panel: ATP1A2,ATP1A3,CACNA1A,COL4A1,COL4A2,CSNK1D,KCNK18,NOTCH3,PNKD,PRRT2,SCN1A,SLC1A3,SLC2A1,SLC4A4,TREX1, | 49 days | LV4243 | +Info |
| Spinal muscular atrophy | NGS and bioinformatic CNVs screening, 16-gene panel: AR,ASAH1,ASCC1,ATP7A,BICD2,CHCHD10,DNAJB2,DYNC1H1,IGHMBP2,PLEKHG5,SIGMAR1,TRIP4,TRPV4,UBA1,VAPB,VRK1, | 49 days | LV4261 | +Info |
| Other movement disorders: Amyotrophic Lateral Sclerosis, Parkinson, Tremor, Dystonias, Chorea, Dementias and Alzheimer | NGS and bioinformatic CNVs screening, 174-gene panel: AARS2,ABCA7,ABCD1,ACTB,ADAR,ADCY5,ALS2,ANG,ANO3,APOE,APP,APTX,ARSA,ATP13A2,ATP1A3,ATP6AP2,ATP7B,B4GALNT1,C19orf12,C9orf72,CARS2,CHCHD10,CHCHD2,CHMP2B,CIZ1,CLN3,CLN6,COL4A1,COL6A3,COQ9,CP,CSF1R,CST3,CTSF,CYP27A1,DCTN1,DNAJC5,DNAJC6,DNMT1,DPM1,EARS2,ECHS1,EIF4G1,EPM2A,ERBB4,ERCC4,FBXO7,FIG4,FMR1,FTL,FUS,GBA,GCH1,GIGYF2,GLDC,GM2A,GNAL,GNAO1,GNB1,GOSR2,GPT2,GRIK2,GRN,HEXA,HNRNPA1,HNRNPA2B1,HPCA,HTRA1,HTRA2,HTT,ITM2B,KCNA2,KCNC1,KCTD17,KIF1C,KMT2B,LRRK2,LYST,MAPT,MATR3,MCOLN1,MECP2,MECR,MMACHC,MRE11,MTFMT,MYH14,NADK2,NEFH,NEK1,NHLRC1,NKX2-1,NOTCH3,NPC1,NPC2,OPTN,PANK2,PARK7,PDGFB,PDGFRB,PDSS2,PFN1,PINK1,PLA2G6,PMPCA,PNKD,PODXL,POLG,POLR1C,POLR3A,POLR3B,PRKN,PRKRA,PRNP,PRRT2,PSEN1,PSEN2,PTS,RAB39B,RNF216,SCARB2,SCP2,SCYL1,SERAC1,SERPINI1,SETX,SGCE,SIGMAR1,SLC20A2,SLC2A1,SLC6A1,SLC6A3,SLC9A1,SNCA,SNCB,SOD1,SORL1,SPG11,SPR,SQSTM1,STXBP1,SYNJ1,TAF1,TARDBP,TBK1,TENM4,TH,THAP1,TIMM8A,TMEM240,TOR1A,TRAPPC11,TREM2,TREX1,TSFM,TTC19,TTR,TUBA4A,TUBB4A,TWNK,TYROBP,UBQLN2,UCHL1,VAC14,VAPB,VCP,VPS13A,VPS13C,VPS35,WARS2,WDR45,WFS1,XK,XPR1, | 49 days | LV4244 | +Info |
| Parkinson Disease | NGS and bioinformatic CNVs screening, 19-gene panel: ATP13A2,CHCHD2,DNAJC6,EIF4G1,FBXO7,GBA,GIGYF2,HTRA2,LRRK2,MAPT,PARK7,PINK1,PLA2G6,PRKN,SNCA,SYNJ1,UCHL1,VPS13C,VPS35, | 49 days | LV4246 | +Info |
| Inherited ataxias autosomal recessive | NGS and bioinformatic CNVs screening, 199-gene panel: AAAS,AARS2,ABHD12,ABHD5,ACO2,ADCK3,AFG3L2,AHI1,ALG6,ANO10,APTX,ARL13B,ARSA,ASS1,ATAD3A,ATCAY,ATM,ATP13A2,ATP8A2,B4GALNT1,B9D1,BRAT1,C12orf65,C19orf12,C5orf42,CA8,CAPN1,CC2D2A,CEP104,CEP120,CEP290,CEP41,CLCN2,CLN3,CLN5,CLN6,CLN8,CLPP,CNTNAP2,COG5,COQ2,COX10,COX14,COX15,COX20,COX6B1,COX8A,CP,CSPP1,CTDP1,CTSD,CTSF,CWF19L1,CYP27A1,CYP7B1,DARS2,DNAJC19,DNAJC3,DNAJC5,DPM1,ERCC4,EXOSC3,FA2H,FASTKD2,FLVCR1,FOLR1,FXN,GALC,GAN,GBA2,GFAP,GJC2,GLB1,GLDC,GOSR2,GRID2,GRM1,GRN,HARS,HEXA,HEXB,HIBCH,HSD17B4,HTRA1,INPP5E,KCNJ10,KCTD7,KIAA0556,KIAA0586,KIF1A,KIF1C,L2HGDH,LAMA1,LMNB2,LRP4,MARS2,MECR,MFSD8,MKS1,MPV17,MRE11,MTFMT,MTPAP,MTTP,NDUFV1,NPC1,NPC2,NPHP1,OPA3,PANK2,PC,PCNA,PDE6D,PDHA1,PET100,PEX10,PEX16,PEX6,PEX7,PGK1,PHYH,PIBF1,PIK3R5,PITRM1,PLA2G6,PMM2,PMPCA,PNKP,PNPLA6,POLG,POLR1C,POLR3A,POLR3B,PPT1,PSAP,PTRH2,PTS,RNF216,RPGRIP1L,RRM2B,RUBCN,SACS,SCARB2,SCO1,SCYL1,SETX,SIL1,SLC17A5,SLC25A46,SLC52A2,SLC52A3,SLC9A1,SNX14,SPG11,SPG7,SPR,SPTBN2,SQSTM1,STUB1,SUFU,SUMF1,SURF1,SYNE1,SYT14,TACO1,TANGO2,TBC1D24,TBCE,TCTN1,TCTN2,TCTN3,TDP1,TDP2,TMEM138,TMEM216,TMEM231,TMEM237,TMEM67,TPK1,TPP1,TRAPPC11,TSFM,TTC19,TTPA,TWNK,UBA5,UCHL1,VARS2,VLDLR,VWA3B,WARS2,WDR73,WDR81,WFS1,WWOX,ZFYVE26,ZMYND11,ZNF423,ZNF592, | 49 days | LV4239 | +Info |
| Mediterranean fever and episodic fever | NGS and bioinformatic CNVs screening, 2-gene panel: MEFV,NLRP3, | 49 days | LV4266 | +Info |
| Family dyskinecia with episodic and facial myochemy | NGS and bioinformatic CNVs screening, 2-gene panel: ADCY5,PRRT2, | 49 days | LV4255 | +Info |
| Essential Tremor | NGS and bioinformatic CNVs screening, 2-gene panel: FUS,TENM4, | 49 days | LV4250 | +Info |
| Neurofibromatosis, type 1 | NGS and bioinformatic CNVs screening, 2-gene panel: NF1, NF2 | 35 days | LV4360 | +Info |
| Neurofibromatosis, type 2 | NGS and bioinformatic CNVs screening, 2-gene panel: NF1, NF2 | 35 days | LV4360 | +Info |
| Friedreich ataxia and differential diagnosis | NGS and bioinformatic CNVs screening, 20-gene panel: ABCB7,APTX,ATCAY,ATM,CTDP1,CYP27A1,FXN,MRE11,MTTP,PCNA,PDHA1,PEX10,PEX16,PEX6,PEX7,PHYH,SETX,SIL1,SYNE1,TTPA, | 49 days | LV4237 | +Info |
| Arthrogryposis and congenital contractures | NGS and bioinformatic CNVs screening, 20-gene panel: ADCY6,ADGRG6,CNTNAP1,COQ7,DNM2,ECEL1,ERBB3,FBN2,GLDN,GLE1,MYBPC1,MYH3,MYH8,NEK9,PIEZO2,PIP5K1C,TNNI2,TNNT3,TPM2,ZBTB42, | 49 days | LV4269 | +Info |
| Fanconi anemia | NGS and bioinformatic CNVs screening, 20-gene panel: BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51, RAD51C, SLX4, UBE2T, XRCC2 | 42 days | LV4331 | +Info |
| Neuropathies (includes Charcot Marie Tooth, Neuropathies and Myasthenia) | NGS and bioinformatic CNVs screening, 200-gene panel: AAAS,AARS,ABCD1,ABHD12,ACO2,AGRN,AIFM1,ALG13,ALG14,ALG2,AMPD2,APTX,AR,ARHGEF10,ARL6IP1,ARSA,ASAH1,ASCC1,ATAD3A,ATL1,ATL3,ATP13A2,ATP7A,B4GALNT1,BICD2,BSCL2,C12orf65,C19orf12,CAPN1,CCT5,CHAT,CHCHD10,CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG,CLTCL1,CNTNAP1,COASY,COL13A1,COLQ,COQ4,COX6A1,CPOX,CTDP1,CTSD,CYP27A1,DARS2,DCAF8,DCTN1,DGUOK,DHH,DHTKD1,DNAJB2,DNM2,DNMT1,DOK7,DPAGT1,DST,DSTYK,DYNC1H1,EGR2,EXOSC3,FBLN5,FBXO38,FGD4,FIG4,GALC,GAN,GARS,GBA2,GBE1,GCLC,GDAP1,GFPT1,GJB1,GJC2,GNB4,GSN,HADHB,HARS,HINT1,HK1,HOXD10,HSD17B4,HSPB1,HSPB3,HSPB8,IARS2,IBA57,IGHMBP2,IKBKAP,INF2,KARS,KIF1A,KIF1B,KIF5A,KLC2,LAMB2,LITAF,LMNA,LRP4,LRSAM1,LYST,MARS,MED25,MEFV,MFN2,MME,MORC2,MPV17,MPZ,MTMR2,MUSK,MYH14,NAGLU,NDRG1,NDUFA9,NEFH,NEFL,NGF,NLRP3,NTRK1,OPA1,PDK3,PDSS1,PDSS2,PEX10,PEX16,PEX7,PHYH,PLA2G6,PLD3,PLEKHG5,PMM2,PMP22,PNKP,PNPLA6,POLG,PRDM12,PREPL,PRPS1,PRX,PSAP,PTPN22,PTRH2,PYROXD1,RAB7A,RAPSN,REEP1,RETREG1,RNASEH1,SBF1,SBF2,SCN11A,SCN4A,SCN9A,SCP2,SCYL1,SEPT9,SETX,SH3TC2,SIGMAR1,SLC18A3,SLC25A1,SLC25A46,SLC52A2,SLC52A3,SLC5A7,SNAP25,SOX10,SPG11,SPTLC1,SPTLC2,STUB1,SUCLA2,SURF1,SYT2,TBC1D24,TBCE,TDP1,TFG,TRIM2,TRIP4,TRPV4,TSFM,TTR,TWNK,TXN2,TYMP,UBA1,UBA5,UNC13A,VAPB,VCP,VRK1,WNK1,XK,YARS, | 49 days | LV4257 | +Info |
| Hereditary Breast and Ovarian Cáncer | NGS and bioinformatic CNVs screening, 22-gene panel:
ATM, BARD1, BLM, BRIP1, CDH1, CHEK2, ERCC4, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PTEN, RAD51, RAD51C, RAD51D, RECQL, STK11, TP53, XRCC2, XRCC3 | 42 days | LV4353 | +Info |
| Hereditary Breast and Ovarian Cáncer | NGS and bioinformatic CNVs screening, 24-gene panel: ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, ERCC4, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PTEN, RAD51, RAD51C, RAD51D, RECQL, STK11, TP53, XRCC2, XRCC3 | 42 days | LV4339 | +Info |
| Amyotrophic lateral sclerosis | NGS and bioinformatic CNVs screening, 26-gene panel: ALS2,ANG,C9orf72,CHCHD10,CHMP2B,DCTN1,ERBB4,FIG4,FUS,HNRNPA1,MATR3,NEFH,NEK1,OPTN,PFN1,SETX,SIGMAR1,SOD1,SPG11,SQSTM1,TARDBP,TBK1,TUBA4A,UBQLN2,VAPB,VCP, | 49 days | LV4247 | +Info |
| Inherited ataxias | NGS and bioinformatic CNVs screening, 269-gene panel: AAAS,AARS2,ABCB7,ABCD1,ABHD12,ABHD5,ACO2,AFG3L2,AHI1,ALG6,ANO10,APTX,ARL13B,ARSA,ASS1,ATAD3A,ATCAY,ATM,ATP13A2,ATP1A2,ATP1A3,ATP2B3,ATP7A,ATP8A2,B4GALNT1,B9D1,BRAT1,C12orf65,C19orf12,C5orf42,CA8,CACNA1A,CACNA1C,CACNA1G,CACNB4,CAMTA1,CAPN1,CASK,CC2D2A,CCDC88C,CEP104,CEP120,CEP290,CEP41,CLCN2,CLN3,CLN5,CLN6,CLN8,CLPP,CNTNAP2,COG5,COQ2,COX10,COX14,COX15,COX20,COX6B1,COX8A,CP,CSF1R,CSPP1,CTBP1,CTDP1,CTSD,CTSF,CWF19L1,CYP27A1,CYP7B1,DARS2,DNAJC19,DNAJC3,DNAJC5,DNMT1,DPM1,EBF3,EEF2,ELOVL4,ELOVL5,ERCC4,EXOSC3,FA2H,FASTKD2,FGF12,FGF14,FLVCR1,FMR1,FOLR1,FTL,FXN,GALC,GAN,GBA2,GFAP,GJC2,GLB1,GLDC,GOSR2,GRID2,GRM1,GRN,HARS,HEXA,HEXB,HIBCH,HSD17B4,HTRA1,IFRD1,INPP5E,ITM2B,ITPR1,KCNA1,KCNA2,KCNC1,KCNC3,KCND3,KCNJ10,KCTD7,KIAA0556,KIAA0586,KIF1A,KIF1C,L2HGDH,LAMA1,LMNB1,LMNB2,LRP4,MARS2,MECP2,MECR,MED13L,MFSD8,MKS1,MME,MPV17,MPZ,MRE11,MTFMT,MTPAP,MTTP,NAGLU,NDUFV1,NKX2-1,NPC1,NPC2,NPHP1,OPA1,OPA3,OPHN1,PANK2,PAX6,PC,PCNA,PDE6D,PDHA1,PDYN,PET100,PEX10,PEX16,PEX6,PEX7,PGK1,PHYH,PIBF1,PIK3R5,PITRM1,PLA2G6,PLD3,PLEKHG4,PLP1,PMM2,PMPCA,PNKP,PNPLA6,POLG,POLR1C,POLR3A,POLR3B,PPT1,PRKCG,PRNP,PRPS1,PSAP,PSEN1,PTRH2,PTS,RNF170,RNF216,RPGRIP1L,RPL10,RRM2B,RUBCN,SACS,SAMD9L,SCARB2,SCN2A,SCN8A,SCO1,SCYL1,SETX,SIL1,SLC16A2,SLC17A5,SLC1A3,SLC20A2,SLC25A46,SLC2A1,SLC52A2,SLC52A3,SLC6A1,SLC9A1,SLC9A6,SNAP25,SNX14,SOX10,SPG11,SPG7,SPR,SPTBN2,SQSTM1,STUB1,SUFU,SUMF1,SURF1,SYNE1,SYT14,TACO1,TANGO2,TBC1D24,TBCE,TCTN1,TCTN2,TCTN3,TDP1,TDP2,TGM6,TMEM138,TMEM216,TMEM231,TMEM237,TMEM240,TMEM67,TPK1,TPP1,TRAPPC11,TRPC3,TSFM,TTBK2,TTC19,TTPA,TTR,TUBB4A,TWNK,UBA5,UCHL1,VAMP1,VARS2,VLDLR,VWA3B,WARS2,WDR73,WDR81,WFS1,WWOX,ZFYVE26,ZMYND11,ZNF423,ZNF592, ADCK3 | 49 days | LV4229 | +Info |
| Myasthenia | NGS and bioinformatic CNVs screening, 28-gene panel: AGRN,ALG13,ALG14,ALG2,CHAT,CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG,COL13A1,COLQ,DOK7,DPAGT1,GFPT1,LAMB2,LRP4,MUSK,PREPL,PTPN22,RAPSN,SCN4A,SLC18A3,SLC25A1,SLC5A7,SNAP25,SYT2,UNC13A, | 49 days | LV4259 | +Info |
| Myasthenic syndromes, congenital | NGS and bioinformatic CNVs screening, 28-gene panel: AGRN,ALG13,ALG14,ALG2,CHAT,CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG,COL13A1,COLQ,DOK7,DPAGT1,GFPT1,LAMB2,LRP4,MUSK,PREPL,PTPN22,RAPSN,SCN4A,SLC18A3,SLC25A1,SLC5A7,SNAP25,SYT2,UNC13A, | 49 days | LV4259 | +Info |
| Joubert Syndrome | NGS and bioinformatic CNVs screening, 28-gene panel: AHI1,ARL13B,B9D1,C5orf42,CC2D2A,CEP104,CEP120,CEP290,CEP41,CSPP1,INPP5E,KIAA0556,KIAA0586,MKS1,NPHP1,PDE6D,PIBF1,RPGRIP1L,SUFU,TCTN1,TCTN2,TCTN3,TMEM138,TMEM216,TMEM231,TMEM237,TMEM67,ZNF423, | 49 days | LV4236 | +Info |
| Myopathies, muscular dystrophies and myotonias | NGS and bioinformatic CNVs screening, 286-gene panel: ABHD5,ACAD9,ACADM,ACADS,ACADVL,ACBD5,ACTA1,ACTG2,ACVR2B,ADCY6,ADGRG6,AGK,AGL,AGPAT2,ALDOA,AMPD1,ANO5,APOPT1,ATP2A1,B3GALNT2,B4GAT1,BAG3,BCS1L,BIN1,BSCL2,BVES,CACNA1S,CAPN3,CASQ1,CAV1,CAV3,CCDC78,CFL2,CHCHD10,CHKB,CIDEC,CLCN1,CNTN1,CNTNAP1,COA5,COL12A1,COL6A1,COL6A2,COL6A3,COL9A3,COQ2,COQ4,COQ7,COQ9,COX10,COX14,COX15,COX20,COX6A2,COX6B1,COX8A,CPT1B,CPT2,CRYAB,CYP2C8,DAG1,DES,DLAT,DMD,DNA2,DNAJB6,DNAJC19,DNM1L,DNM2,DOK7,DOLK,DPM1,DPM2,DPM3,DYSF,EARS2,ECEL1,ECHS1,ELAC2,EMD,ENO3,ERBB3,ETFA,ETFB,ETFDH,EXOSC3,EXOSC8,FAM111B,FARS2,FASTKD2,FBN2,FBXL4,FDX1L,FHL1,FHL2,FKBP14,FKRP,FKTN,FLAD1,FLNC,FOXRED1,GAA,GBE1,GCLC,GFER,GFM1,GLB1,GLDN,GLE1,GMPPB,GNE,GYG1,GYS1,HADHA,HADHB,HIBCH,HINT1,HNRNPA1,HNRNPA2B1,HNRNPDL,HRAS,HSPG2,HTRA2,INPP5K,ISCU,ISPD,ITGA7,ITGA9,KBTBD13,KCNJ2,KLHL40,KLHL41,LAMA2,LAMP2,LARGE1,LDB3,LDHA,LIMS2,LIPE,LMNA,LMNB2,LMOD3,LPIN1,LYRM7,MATR3,MEGF10,MGME1,MICU1,MPV17,MSTN,MTAP,MTHFR,MTM1,MTMR14,MYBPC1,MYF6,MYH14,MYH2,MYH3,MYH7,MYH8,MYOT,MYPN,NALCN,NARS2,NDUFA11,NDUFA12,NDUFA9,NDUFAF1,NDUFAF4,NDUFAF6,NDUFB3,NDUFS4,NDUFV2,NEB,NEK9,NFU1,NUBPL,OPA1,ORAI1,PABPN1,PAX7,PDSS1,PDSS2,PET100,PFKM,PGAM2,PGK1,PGM1,PHKA1,PHKB,PIEZO2,PIP5K1C,PLEC,PLIN1,PMM2,PNPLA2,PNPLA8,POGLUT1,POLG,POLG2,POMGNT1,POMGNT2,POMK,POMT1,POMT2,PPARG,PRKAG2,PSMB8,PTRF,PUS1,PYGM,PYROXD1,RBCK1,RNASEH1,RRM2B,RXYLT1,RYR1,SARS2,SCN4A,SCO1,SCO2,SDHA,SDHAF1,SDHD,SELENON,SERAC1,SGCA,SGCB,SGCD,SGCG,SLC16A1,SLC22A5,SLC25A20,SLC25A26,SLC25A32,SLC25A4,SLC35A2,SLC52A2,SLC52A3,SMCHD1,SMPD1,SPEG,SQSTM1,STAC3,STIM1,SUCLA2,SUCLG1,SYNE1,SYNE2,TACO1,TANGO2,TAZ,TBCD,TBCE,TCAP,TIA1,TK2,TMEM126B,TMEM43,TNNI2,TNNT1,TNNT3,TNPO3,TOR1AIP1,TPM2,TPM3,TRAPPC11,TRIM32,TRIP4,TRMT10C,TRMT5,TSFM,TTC19,TTN,TTR,TWNK,TYMP,VARS2,VCP,VMA21,WARS2,XK,YARS2,ZBTB42,ZC4H2, | 49 days | LV4268 | +Info |
| Periodic paralysis (hypo, normo and hyperkalemic) and thyrotoxic and Andersen Tawil syndrome | NGS and bioinformatic CNVs screening, 3-gene panel: CACNA1S,KCNJ2,SCN4A, | 49 days | LV4270 | +Info |
| Neuropathy, congenital hypomyelinating | NGS and bioinformatic CNVs screening, 3-gene panel: CNTNAP1,EGR2,MPZ, | 49 days | LV4265 | +Info |
| Leukodystrophies and Leukoencephalopathies | NGS and bioinformatic CNVs screening, 32-gene panel: AARS2,ABAT,ABCD1,AIMP1,ARSA,CLCN2,CSF1R,DARS,DARS2,EARS2,EIF2B1,EIF2B2,EIF2B3,EIF2B4,EIF2B5,FAM126A,GALC,GJC2,HSPD1,HTRA1,LMNB1,NOTCH3,PLP1,POLR1C,POLR3A,POLR3B,PSAP,SCP2,TREM2,TREX1,TUBB4A,VPS11, | 49 days | LV4242 | +Info |
| Primary and secondary tremor | NGS and bioinformatic CNVs screening, 34-gene panel: AARS2,ADAR,ANO3,APTX,ATP13A2,ATP7B,CTSF,DPM1,ERCC4,FUS,GOSR2,GPT2,GRIK2,KCNA2,KCNC1,KIF1C,LYST,MMACHC,MTFMT,MYH14,PDSS2,PMPCA,POLR1C,POLR3B,PTS,SCARB2,SCYL1,SLC20A2,SLC6A1,SLC9A1,STXBP1,TENM4,TMEM240,WFS1, | 49 days | LV4249 | +Info |
| Limb-girdle muscular dystrophies | NGS and bioinformatic CNVs screening, 35-gene panel: ANO5,BVES,CAPN3,CAV3,COL6A1,COL6A2,COL6A3,DAG1,DNAJB6,DPM3,DYSF,FKRP,FKTN,GMPPB,HNRNPDL,ISPD,LAMA2,LIMS2,MYOT,PLEC,POGLUT1,POMGNT1,POMGNT2,POMK,POMT1,POMT2,SGCA,SGCB,SGCD,SGCG,TCAP,TNPO3,TRAPPC11,TRIM32,TTN, | 49 days | LV4273 | +Info |
| Parkinson disease, Parkinsonism | NGS and bioinformatic CNVs screening, 36-gene panel: APOE,ATP13A2,ATP1A3,ATP6AP2,C19orf12,C9orf72,CHCHD2,CLN3,DCTN1,DNAJC5,DNAJC6,EIF4G1,FBXO7,FMR1,FTL,GBA,GIGYF2,GRN,HTRA2,LRRK2,MAPT,PARK7,PINK1,PLA2G6,PODXL,POLG,PRKN,RAB39B,SLC6A3,SNCA,SYNJ1,TAF1,TH,UCHL1,VPS13C,VPS35, | 49 days | LV4248 | +Info |
| Ataxia and oculomotor apraxia | NGS and bioinformatic CNVs screening, 4-gene panel: APTX,PIK3R5,PNKP,SETX, | 49 days | LV4232 | +Info |
| Myotonia, congenital paramyotonia, neuromyotonia and Schwartz-Jampel 1, syndrome | NGS and bioinformatic CNVs screening, 4-gene panel: CLCN1,HINT1,HSPG2,SCN4A, | 49 days | LV4271 | +Info |
| Spinocerebellar ataxias | NGS and bioinformatic CNVs screening, 41-gene panel: AFG3L2,ANO10,ATP2B3,CACNA1G,CCDC88C,CWF19L1,EEF2,ELOVL4,ELOVL5,FGF14,GRID2,GRM1,IFRD1,ITPR1,KCNC3,KCND3,MME,PDYN,PLD3,PMPCA,PRKCG,RUBCN,SCYL1,SLC9A1,SLC9A6,SNX14,SPTBN2,STUB1,SYNE1,SYT14,TDP1,TDP2,TGM6,TMEM240,TPP1,TRPC3,TTBK2,UBA5,VWA3B,WWOX,ZNF592, | 49 days | LV4235 | +Info |
| Neuromuscular axis disorders: Charcot Marie Tooth, Neuropathies, Myasthenias, Myotonias, Myopathies and Muscular Dystrophies | NGS and bioinformatic CNVs screening, 452-gene panel: AAAS,AARS,ABCD1,ABHD12,ABHD5,ACAD9,ACADM,ACADS,ACADVL,ACBD5,ACO2,ACTA1,ACTG2,ACVR2B,ADCY6,ADGRG6,AGK,AGL,AGPAT2,AGRN,AIFM1,ALDOA,ALG13,ALG14,ALG2,AMPD1,AMPD2,ANO5,APOPT1,APTX,AR,ARHGEF10,ARL6IP1,ARSA,ASAH1,ASCC1,ATAD3A,ATL1,ATL3,ATP13A2,ATP2A1,ATP7A,B3GALNT2,B4GALNT1,B4GAT1,BAG3,BCS1L,BICD2,BIN1,BSCL2,BVES,C12orf65,C19orf12,CACNA1S,CAPN1,CAPN3,CASQ1,CAV1,CAV3,CCDC78,CCT5,CFL2,CHAT,CHCHD10,CHKB,CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG,CIDEC,CLCN1,CLTCL1,CNTN1,CNTNAP1,COA5,COASY,COL12A1,COL13A1,COL6A1,COL6A2,COL6A3,COL9A3,COLQ,COQ2,COQ4,COQ7,COQ9,COX10,COX14,COX15,COX20,COX6A1,COX6A2,COX6B1,COX8A,CPOX,CPT1B,CPT2,CRYAB,CTDP1,CTSD,CYP27A1,CYP2C8,DAG1,DARS2,DCAF8,DCTN1,DES,DGUOK,DHH,DHTKD1,DLAT,DMD,DNA2,DNAJB2,DNAJB6,DNAJC19,DNM1L,DNM2,DNMT1,DOK7,DOLK,DPAGT1,DPM1,DPM2,DPM3,DST,DSTYK,DYNC1H1,DYSF,EARS2,ECEL1,ECHS1,EGR2,ELAC2,EMD,ENO3,ERBB3,ETFA,ETFB,ETFDH,EXOSC3,EXOSC8,FAM111B,FARS2,FASTKD2,FBLN5,FBN2,FBXL4,FBXO38,FDX1L,FGD4,FHL1,FHL2,FIG4,FKBP14,FKRP,FKTN,FLAD1,FLNC,FOXRED1,GAA,GALC,GAN,GARS,GBA2,GBE1,GCLC,GDAP1,GFER,GFM1,GFPT1,GJB1,GJC2,GLB1,GLDN,GLE1,GMPPB,GNB4,GNE,GSN,GYG1,GYS1,HADHA,HADHB,HARS,HIBCH,HINT1,HK1,HNRNPA1,HNRNPA2B1,HNRNPDL,HOXD10,HRAS,HSD17B4,HSPB1,HSPB3,HSPB8,HSPG2,HTRA2,IARS2,IBA57,IGHMBP2,IKBKAP,INF2,INPP5K,ISCU,ISPD,ITGA7,ITGA9,KARS,KBTBD13,KCNJ2,KIF1A,KIF1B,KIF5A,KLC2,KLHL40,KLHL41,LAMA2,LAMB2,LAMP2,LARGE1,LDB3,LDHA,LIMS2,LIPE,LITAF,LMNA,LMNB2,LMOD3,LPIN1,LRP4,LRSAM1,LYRM7,LYST,MARS,MATR3,MED25,MEFV,MEGF10,MFN2,MGME1,MICU1,MME,MORC2,MPV17,MPZ,MSTN,MTAP,MTHFR,MTM1,MTMR14,MTMR2,MUSK,MYBPC1,MYF6,MYH14,MYH2,MYH3,MYH7,MYH8,MYOT,MYPN,NAGLU,NALCN,NARS2,NDRG1,NDUFA11,NDUFA12,NDUFA9,NDUFAF1,NDUFAF4,NDUFAF6,NDUFB3,NDUFS4,NDUFV2,NEB,NEFH,NEFL,NEK9,NFU1,NGF,NLRP3,NTRK1,NUBPL,OPA1,ORAI1,PABPN1,PAX7,PDK3,PDSS1,PDSS2,PET100,PEX10,PEX16,PEX7,PFKM,PGAM2,PGK1,PGM1,PHKA1,PHKB,PHYH,PIEZO2,PIP5K1C,PLA2G6,PLD3,PLEC,PLEKHG5,PLIN1,PMM2,PMP22,PNKP,PNPLA2,PNPLA6,PNPLA8,POGLUT1,POLG,POLG2,POMGNT1,POMGNT2,POMK,POMT1,POMT2,PPARG,PRDM12,PREPL,PRKAG2,PRPS1,PRX,PSAP,PSMB8,PTPN22,PTRF,PTRH2,PUS1,PYGM,PYROXD1,RAB7A,RAPSN,RBCK1,REEP1,RETREG1,RNASEH1,RRM2B,RXYLT1,RYR1,SARS2,SBF1,SBF2,SCN11A,SCN4A,SCN9A,SCO1,SCO2,SCP2,SCYL1,SDHA,SDHAF1,SDHD,SELENON,SEPT9,SERAC1,SETX,SGCA,SGCB,SGCD,SGCG,SH3TC2,SIGMAR1,SLC16A1,SLC18A3,SLC22A5,SLC25A1,SLC25A20,SLC25A26,SLC25A32,SLC25A4,SLC25A46,SLC35A2,SLC52A2,SLC52A3,SLC5A7,SMCHD1,SMPD1,SNAP25,SOX10,SPEG,SPG11,SPTLC1,SPTLC2,SQSTM1,STAC3,STIM1,STUB1,SUCLA2,SUCLG1,SURF1,SYNE1,SYNE2,SYT2,TACO1,TANGO2,TAZ,TBC1D24,TBCD,TBCE,TCAP,TDP1,TFG,TIA1,TK2,TMEM126B,TMEM43,TNNI2,TNNT1,TNNT3,TNPO3,TOR1AIP1,TPM2,TPM3,TRAPPC11,TRIM2,TRIM32,TRIP4,TRMT10C,TRMT5,TRPV4,TSFM,TTC19,TTN,TTR,TWNK,TXN2,TYMP,UBA1,UBA5,UNC13A,VAPB,VARS2,VCP,VMA21,VRK1,WARS2,WNK1,XK,YARS,YARS2,ZBTB42,ZC4H2, | 56 days | LV4256 | +Info |
| Movement disorders (Ataxias, Paraplegias, Leukodystrophies, Migraines, Amyotrophic Lateral Sclerosis, Parkinson, Tremor, Dystonias, Korea, Dementias, Alzheimer) | NGS and bioinformatic CNVs screening, 455-gene panel: AAAS,AARS2,ABAT,ABCA7,ABCB7,ABCD1,ABHD12,ABHD5,ACO2,ACP5,ACTB,ADAR,ADCK3,ADCY5,AFG3L2,AHDC1,AHI1,AIMP1,ALDH18A1,ALG6,ALS2,AMPD2,ANG,ANO10,ANO3,AP4B1,AP4E1,AP4M1,AP4S1,AP5Z1,APOE,APP,APTX,ARL13B,ARL6IP1,ARSA,ARSI,ASNS,ASS1,ATAD3A,ATCAY,ATL1,ATM,ATP13A2,ATP1A2,ATP1A3,ATP2B3,ATP2B4,ATP6AP2,ATP7A,ATP7B,ATP8A2,B4GALNT1,B9D1,BRAT1,BSCL2,C12orf65,C19orf12,C5orf42,C9orf72,CA8,CACNA1A,CACNA1C,CACNA1G,CACNB4,CAMTA1,CAPN1,CARS2,CASK,CC2D2A,CCDC88C,CCT5,CEP104,CEP120,CEP290,CEP41,CHCHD10,CHCHD2,CHMP2B,CIZ1,CLCN2,CLN3,CLN5,CLN6,CLN8,CLPP,CNTNAP2,COASY,COG5,COL4A1,COL4A2,COL6A3,COQ2,COQ9,COX10,COX14,COX15,COX20,COX6B1,COX8A,CP,CPT1C,CSF1R,CSNK1D,CSPP1,CST3,CTBP1,CTDP1,CTNNB1,CTSD,CTSF,CWF19L1,CYP27A1,CYP2U1,CYP7B1,DARS,DARS2,DCTN1,DDHD1,DDHD2,DNA2,DNAJC19,DNAJC3,DNAJC5,DNAJC6,DNMT1,DPM1,DSTYK,EARS2,EBF3,ECHS1,EEF2,EIF2B1,EIF2B2,EIF2B3,EIF2B4,EIF2B5,EIF4G1,ELOVL4,ELOVL5,ELP2,ENTPD1,EPM2A,ERBB4,ERCC4,ERLIN1,ERLIN2,EXOSC3,EXOSC8,FA2H,FAM126A,FARS2,FASTKD2,FBXO7,FGF12,FGF14,FIG4,FLVCR1,FMR1,FOLR1,FTL,FUS,FXN,GAD1,GALC,GAN,GBA,GBA2,GCH1,GFAP,GIGYF2,GJC2,GLB1,GLDC,GM2A,GNAL,GNAO1,GNB1,GOSR2,GPT2,GRID2,GRIK2,GRM1,GRN,HARS,HEXA,HEXB,HIBCH,HNRNPA1,HNRNPA2B1,HPCA,HSD17B4,HSPD1,HTRA1,HTRA2,HTT,IBA57,IFIH1,IFRD1,INPP5E,ITM2B,ITPR1,KCNA1,KCNA2,KCNC1,KCNC3,KCND3,KCNJ10,KCNK18,KCTD17,KCTD7,KIAA0556,KIAA0586,KIDINS220,KIF1A,KIF1C,KIF5A,KLC2,KMT2B,L1CAM,L2HGDH,LAMA1,LMNB1,LMNB2,LRP4,LRRK2,LYST,MAG,MAPT,MARS2,MATR3,MCOLN1,MECP2,MECR,MED13L,MFSD8,MKS1,MMACHC,MME,MPV17,MPZ,MRE11,MTFMT,MTPAP,MTTP,MYH14,NADK2,NAGLU,NALCN,NDUFV1,NEFH,NEK1,NHLRC1,NIPA1,NKX2-1,NOTCH3,NPC1,NPC2,NPHP1,NT5C2,OPA1,OPA3,OPHN1,OPTN,PANK2,PARK7,PAX6,PC,PCNA,PDE6D,PDGFB,PDGFRB,PDHA1,PDSS2,PDYN,PET100,PEX10,PEX16,PEX6,PEX7,PFN1,PGAP1,PGK1,PHYH,PIBF1,PIK3R5,PINK1,PITRM1,PLA2G6,PLD3,PLEKHG4,PLP1,PMM2,PMPCA,PNKD,PNKP,PNPLA6,PODXL,POLG,POLR1C,POLR3A,POLR3B,PPT1,PRKCG,PRKN,PRKRA,PRNP,PRPS1,PRRT2,PSAP,PSEN1,PSEN2,PTRH2,PTS,RAB39B,REEP1,REEP2,RNASEH2B,RNF170,RNF216,RPGRIP1L,RPL10,RRM2B,RTN2,RUBCN,SACS,SAMD9L,SCARB2,SCN1A,SCN2A,SCN8A,SCO1,SCP2,SCYL1,SERAC1,SERPINI1,SETX,SGCE,SIGMAR1,SIL1,SLC16A2,SLC17A5,SLC1A3,SLC1A4,SLC20A2,SLC25A46,SLC2A1,SLC33A1,SLC4A4,SLC52A2,SLC52A3,SLC6A1,SLC6A3,SLC9A1,SLC9A6,SNAP25,SNCA,SNCB,SNX14,SOD1,SORL1,SOX10,SPART,SPAST,SPG11,SPG21,SPG7,SPR,SPTAN1,SPTBN2,SQSTM1,STUB1,STXBP1,SUFU,SUMF1,SURF1,SYNE1,SYNJ1,SYT14,TACO1,TAF1,TANGO2,TARDBP,TBC1D24,TBCD,TBCE,TBK1,TCTN1,TCTN2,TCTN3,TDP1,TDP2,TECPR2,TENM4,TFG,TGM6,TH,THAP1,TIMM8A,TMEM138,TMEM216,TMEM231,TMEM237,TMEM240,TMEM67,TOR1A,TPK1,TPP1,TRAPPC11,TREM2,TREX1,TRPC3,TSEN54,TSFM,TTBK2,TTC19,TTPA,TTR,TUBA4A,TUBB4A,TWNK,TYROBP,UBA5,UBQLN2,UCHL1,USP8,VAC14,VAMP1,VAPB,VARS2,VCP,VLDLR,VPS11,VPS13A,VPS13C,VPS35,VPS37A,VWA3B,WARS2,WASHC5,WDR45,WDR45B,WDR48,WDR73,WDR81,WFS1,WWOX,XK,XPR1,ZFR,ZFYVE26,ZFYVE27,ZMYND11,ZNF423,ZNF592, | 56 days | LV4231 | +Info |
| Alzheimer disease | NGS and bioinformatic CNVs screening, 5-gene panel: ABCA7,APP,PSEN1,PSEN2,SORL1,, and APOE, | 49 days | LV4253 | +Info |
| Episodic Ataxias | NGS and bioinformatic CNVs screening, 5-gene panel: CACNA1A,CACNB4,KCNA1,SLC1A3,TPK1, | 49 days | LV4233 | +Info |
| Multiple pterygium | NGS and bioinformatic CNVs screening, 5-gene panel: CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG, | 49 days | LV4260 | +Info |
| Charcot-Marie-Tooth Disease | NGS and bioinformatic CNVs screening, 54-gene panel: AARS,AIFM1,ARHGEF10,COX6A1,DHTKD1,DNAJB2,DNM2,DYNC1H1,EGR2,FGD4,FIG4,GARS,GDAP1,GJB1,GNB4,HARS,HK1,HOXD10,HSPB1,HSPB8,IGHMBP2,INF2,KARS,KIF1B,LITAF,LMNA,LRSAM1,MARS,MED25,MFN2,MME,MORC2,MPV17,MPZ,MTMR2,NAGLU,NDRG1,NEFH,NEFL,PDK3,PLEKHG5,PMP22,PRPS1,PRX,RAB7A,SBF1,SBF2,SH3TC2,SPG11,SURF1,TRIM2,TRPV4,VCP,YARS, | 49 days | LV4258 | +Info |
| Dementia | NGS and bioinformatic CNVs screening, 54-gene panel: AARS2,ABCA7,ABCD1,APOE,APP,ATP13A2,ATP1A3,ATP7B,C19orf12,CHCHD10,CHMP2B,CLN3,CLN6,CSF1R,CST3,CTSF,CYP27A1,DCTN1,DNAJC5,DNMT1,EPM2A,ERCC4,FUS,GBA,GRN,HEXA,HNRNPA2B1,HTRA1,ITM2B,MAPT,MMACHC,NHLRC1,NOTCH3,NPC1,NPC2,PRNP,PSEN1,PSEN2,RNF216,SERPINI1,SNCA,SNCB,SQSTM1,TARDBP,TBK1,TREM2,TREX1,TTR,TUBA4A,TWNK,TYROBP,UBQLN2,VCP,WDR45, | 49 days | LV4245 | +Info |
| Inherited dystonias | NGS and bioinformatic CNVs screening, 56-gene panel: AARS2,ACTB,ADAR,ADCY5,ANO3,APTX,ARSA,ATP13A2,ATP1A3,ATP7B,B4GALNT1,CARS2,CIZ1,COL4A1,COL6A3,COQ9,EARS2,ECHS1,FTL,GCH1,GM2A,GNAL,GNAO1,GNB1,HNRNPA2B1,HPCA,KCTD17,KMT2B,MCOLN1,MECP2,MECR,NADK2,PANK2,PNKD,POLR3A,PRKRA,PRRT2,PTS,SCP2,SERAC1,SGCE,SLC2A1,SLC6A3,SPR,TAF1,TH,THAP1,TIMM8A,TOR1A,TRAPPC11,TSFM,TTC19,TUBB4A,VAC14,WARS2,WDR45, | 49 days | LV4251 | +Info |
| Insensitivity to pain | NGS and bioinformatic CNVs screening, 6-gene panel: CLTCL1,NGF,NTRK1,PRDM12,SCN11A,SCN9A, | 49 days | LV4264 | +Info |
| Basal ganglia disorders | NGS and bioinformatic CNVs screening, 6-gene panel: PDGFB,PDGFRB,RAB39B,SLC20A2,TREM2,XPR1, | 49 days | LV4254 | +Info |
| Inherited ataxias autosomal dominant | NGS and bioinformatic CNVs screening, 64-gene panel: ATAD3A,ATP1A2,ATP1A3,CACNA1A,CACNA1C,CACNA1G,CACNB4,CAMTA1,CCDC88C,CSF1R,CTBP1,DNMT1,EBF3,EEF2,ELOVL4,ELOVL5,FGF12,FGF14,FTL,GRM1,IFRD1,ITM2B,ITPR1,KCNA1,KCNA2,KCNC1,KCNC3,KCND3,LMNB1,LRP4,MED13L,MME,MPZ,NAGLU,NKX2-1,OPA1,PAX6,PDYN,PLD3,PLEKHG4,POLG,PRKCG,PRNP,PSEN1,RNF170,SAMD9L,SCN2A,SCN8A,SLC1A3,SLC20A2,SLC2A1,SLC6A1,SNAP25,SOX10,SPR,TGM6,TMEM240,TRPC3,TTBK2,TTR,TUBB4A,TWNK,VAMP1,ZNF423, | 49 days | LV4238 | +Info |
| Spastic ataxias | NGS and bioinformatic CNVs screening, 7-gene panel: AFG3L2, KIF1C, MARS2, MTPAP, NKX6-2, SACS, VAMP1 | 49 days | LV4234 | +Info |
| Gastrointestinal stromal tumor, familial (GIST) | NGS and bioinformatic CNVs screening, 7-gene panel: KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD | 42 days | LV4362 | +Info |
| Nervous System/Brain Tumors | NGS and bioinformatic CNVs screening, 7-gene panel: NF1, NF2, POT1, RB1, TSC1, TSC2, VHL | 42 days | LV4359 | +Info |
| Melanoma and Tumor predisposition syndrome | NGS and bioinformatic CNVs screening, 8-gene panel: BAP1, CDK4, CDKN2A, MC1R, MITF, POT1, TERT, XRCC3 | 42 days | LV4357 | +Info |
| Renal Cancer (clear cell renal cancer, papillary renal cancer, Birt-Hogg-Dube syndrome) | NGS and bioinformatic CNVs screening, 8-gene panel: DIS3L2, FH, FLCN, HNF1A, HNF1B, MET, SDHB, VHL | 42 days | LV4355 | +Info |
| Colorectal Cáncer, Hereditary Nonpolyposis | NGS and bioinformatic CNVs screening, 9-gene panel: BUB1, EPCAM, MLH1, MSH2, MSH6, PMS1, PMS2, POLD1, POLE | 42 days | LV4282 | +Info |
| Motor and sensory neuropathies, primary and secondary | NGS and bioinformatic CNVs screening, 99-gene panel: AAAS,ABCD1,ABHD12,ACO2,AMPD2,APTX,ARL6IP1,ARSA,ATAD3A,ATL1,ATL3,ATP13A2,B4GALNT1,BSCL2,C12orf65,C19orf12,CAPN1,CCT5,COASY,COQ4,CPOX,CTDP1,CTSD,CYP27A1,DARS2,DCAF8,DCTN1,DGUOK,DHH,DNMT1,DSTYK,EXOSC3,FBLN5,FBXO38,GALC,GAN,GARS,GBA2,GBE1,GCLC,GJC2,GSN,HADHB,HINT1,HK1,HSD17B4,HSPB1,HSPB3,HSPB8,IARS2,IBA57,IGHMBP2,KIF1A,KIF5A,KLC2,LYST,MFN2,MYH14,NDUFA9,OPA1,PDSS1,PDSS2,PEX10,PEX16,PEX7,PHYH,PLA2G6,PLD3,PMM2,PNKP,PNPLA6,POLG,PRX,PSAP,PTRH2,PYROXD1,REEP1,RNASEH1,SCP2,SCYL1,SEPT9,SETX,SLC25A46,SLC52A2,SLC52A3,SOX10,STUB1,SUCLA2,TBC1D24,TBCE,TDP1,TFG,TRPV4,TSFM,TTR,TWNK,TYMP,UBA5,XK, | 49 days | LV4263 | +Info |
| Capillary and Arteriovenous Malformations | NGS AND Sanger sequencing of the RASA1 gene | 42 days | LV3110 | +Info |
| Acromicric dysplasia | NGS and Sanger sequencing FBN1 gene | 42 days | LV2366 | +Info |
| Ectopia lentis, familial | NGS and Sanger sequencing FBN1 gene | 42 days | LV2366 | +Info |
| Geleophysic dysplasia 2 | NGS and Sanger sequencing FBN1 gene | 42 days | LV2366 | +Info |
| Marfan syndrome | NGS and Sanger sequencing FBN1 gene | 42 days | LV2366 | +Info |
| MASS syndrome | NGS and Sanger sequencing FBN1 gene | 42 days | LV2366 | +Info |
| Stiff skin syndrome | NGS and Sanger sequencing FBN1 gene | 42 days | LV2366 | +Info |
| Weill-Marchesani syndrome 2, dominant | NGS and Sanger sequencing FBN1 gene | 42 days | LV2366 | +Info |
| Brugada syndrome 3 | NGS and Sanger Sequencing in the CACNA1C gene | 42 days | LV1742 | +Info |
| Timothy syndrome | NGS and Sanger Sequencing in the CACNA1C gene | 42 days | LV1742 | +Info |
| Deafness, autosomal recessive 12 | NGS and Sanger Sequencing in the CDH23 gene | 42 days | LV1746 | +Info |
| Usher syndrome, type 1D | NGS and Sanger Sequencing in the CDH23 gene | 42 days | LV1746 | +Info |
| Bardet-Biedl syndrome 14 | NGS and Sanger Sequencing in the CEP290 gene | 42 days | LV1748 | +Info |
| Joubert syndrome 5 | NGS and Sanger Sequencing in the CEP290 gene | 42 days | LV1748 | +Info |
| Leber congenital amaurosis 10 | NGS and Sanger Sequencing in the CEP290 gene | 42 days | LV1748 | +Info |
| Meckel syndrome type 4 | NGS and Sanger Sequencing in the CEP290 gene | 42 days | LV1748 | +Info |
| Senior-Loken syndrome 6 | NGS and Sanger Sequencing in the CEP290 gene | 42 days | LV1748 | +Info |
| Atrial fibrillation, familial, 12 | NGS and Sanger sequencing of ABCC9 gene | 42 days | LV2518 | +Info |
| Osteochondritis dissecans, short stature, and early-onset osteoarthrit | NGS and Sanger sequencing of ACAN gene | 42 days | LV1705 | +Info |
| Spondyloepimetaphyseal dysplasia, aggrecan type | NGS and Sanger sequencing of ACAN gene | 42 days | LV1705 | +Info |
| Spondyloepiphyseal dysplasia, Kimberley type | NGS and Sanger sequencing of ACAN gene | 42 days | LV1705 | +Info |
| Familial Hemiplegic Migraine 2 | NGS and Sanger sequencing of ATP1A2 gene | 53 days | LV1285 | +Info |
| 3-M syndrome 1 | NGS and Sanger Sequencing of CUL7 gene | 42 days | LV1816 | +Info |
| Duchenne-Becker Muscular Dystrophy | NGS and Sanger sequencing of DMD gene | 42 days | LV2484 | +Info |
| Mental retardation, autosomal recessive 38 | NGS and Sanger sequencing of HERC2 gene | 42 days | LV3386 | +Info |
| Arthrogryposis multiplex congenital, distal, type 2B | NGS and Sanger sequencing of MYH3 gene | 42 days | LV2531 | +Info |
| Arthrogryposis, distal, type 2A | NGS and Sanger sequencing of MYH3 gene | 42 days | LV2531 | +Info |
| Tangier disease | NGS and Sanger Sequencing of the ABCA1 gene | 42 days | LV2435 | +Info |
| Pseudoxanthoma Elasticum | NGS and Sanger sequencing of the ABCC6 gene | 42 days | LV3165 | +Info |
| Glycogen storage disease III | NGS and Sanger Sequencing of the AGL gene | 42 days | LV2477 | +Info |
| Long QT syndrome-11 | NGS and Sanger Sequencing of the AKAP9 gene | 42 days | LV1716 | +Info |
| Cardiac arrhythmia, ankyrin-B-related | NGS and Sanger Sequencing of the ANK2 gene | 42 days | LV1720 | +Info |
| Long QT syndrome-4 | NGS and Sanger Sequencing of the ANK2 gene | 42 days | LV1720 | +Info |
| Hypercholesterolemia, familial | NGS and Sanger sequencing of the APOB gene | 28 days | LV3429 | +Info |
| Hypobetalipoproteinemia | NGS and Sanger sequencing of the APOB gene | 28 days | LV3429 | +Info |
| Menkes disease | NGS and Sanger Sequencing of the ATP7A gene | 42 days | LV1730 | +Info |
| Occipital horn syndrome | NGS and Sanger Sequencing of the ATP7A gene | 42 days | LV1730 | +Info |
| Spinal muscular atrophy, distal, X-linked 3 | NGS and Sanger Sequencing of the ATP7A gene | 42 days | LV1730 | +Info |
| Hypermobility and anterior cruciate ligament injury | NGS and Sanger Sequencing of the COL12A1 gene | 42 days | LV2255 | +Info |
| Caffey disease | NGS and Sanger Sequencing of the COL1A1 gene | 42 days | LV2263 | +Info |
| Ehlers-Danlos syndrome type 1 | NGS and Sanger Sequencing of the COL1A1 gene | 42 days | LV2263 | +Info |
| Ehlers-Danlos syndrome, type VIIA | NGS and Sanger Sequencing of the COL1A1 gene | 42 days | LV2263 | +Info |
| Osteogenesis Imperfecta, type III | NGS and Sanger Sequencing of the COL1A1 gene | 42 days | LV2263 | +Info |
| Osteogenesis Imperfecta, type II | NGS and Sanger Sequencing of the COL1A1 gene | 42 days | LV2263 | +Info |
| Osteogenesis Imperfecta, type IV | NGS and Sanger Sequencing of the COL1A1 gene | 42 days | LV2263 | +Info |
| Osteogenesis Imperfecta | NGS and Sanger Sequencing of the COL1A1 gene | 42 days | LV2263 | +Info |
| Ehlers-Danlos syndrome, cardiac valvular form | NGS and Sanger Sequencing of the COL1A2 gene | 42 days | LV1770 | +Info |
| Ehlers-Danlos syndrome, Type VIIB | NGS and Sanger Sequencing of the COL1A2 gene | 42 days | LV1770 | +Info |
| Osteogenesis Imperfecta, type III | NGS and Sanger Sequencing of the COL1A2 gene | 42 days | LV1770 | +Info |
| Osteogenesis Imperfecta, type II | NGS and Sanger Sequencing of the COL1A2 gene | 42 days | LV1770 | +Info |
| Osteogenesis Imperfecta, type IV | NGS and Sanger Sequencing of the COL1A2 gene | 42 days | LV1770 | +Info |
| Achondrogenesis, type II or hypochondrogenesis | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| Avascular necrosis of the femoral head | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| Czech dysplasia | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| Epiphyseal dysplasia, multiple, with myopia and deafness | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| Kniest dysplasia | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| Legg-Calve-Perthes disease | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| Osteoarthritis with mild chondrodysplasia | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| Platyspondylic skeletal dysplasia, Torrance type | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| SED congenita | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| SMED Strudwick type | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| Spondyloperipheral dysplasia | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| Stickler sydrome, type I, nonsyndromic ocular | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| Stickler type I Syndrome (achondrogenesis type I) | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| Ehlers-Danlos Syndrome, type III | NGS and Sanger Sequencing of the COL3A1 gene | 42 days | LV2264 | +Info |
| Ehlers-Danlos syndrome, type IV (vascular) | NGS and Sanger Sequencing of the COL3A1 gene | 42 days | LV2264 | +Info |
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle | NGS and Sanger Sequencing of the COL4A1 gene | 42 days | LV2408 | +Info |
| Porencephaly 1 | NGS and Sanger Sequencing of the COL4A1 gene | 42 days | LV2408 | +Info |
| Ehlers-Danlos syndrome type 1 | NGS and Sanger Sequencing of the COL5A1 gene | 42 days | LV2262 | +Info |
| Ehlers-Danlos syndrome, type II | NGS and Sanger Sequencing of the COL5A1 gene | 42 days | LV2262 | +Info |
| Arterial calcification, generalized, of infancy, 1 | NGS and Sanger Sequencing of the ENPP1 gene | 42 days | LV1840 | +Info |
| Hypophosphatemic rickets, autosomal recessive, 2 | NGS and Sanger Sequencing of the ENPP1 gene | 42 days | LV1840 | +Info |
| Ossification of posterior longitudinal ligament of spine | NGS and Sanger Sequencing of the ENPP1 gene | 42 days | LV1840 | +Info |
| Cardiomyopathy, dilated, 1J | NGS and Sanger Sequencing of the EYA4 gene | 42 days | LV1845 | +Info |
| Deafness, autosomal dominant 10 | NGS and Sanger Sequencing of the EYA4 gene | 42 days | LV1845 | +Info |
| Atelosteogenesis, type III | NGS and Sanger Sequencing of the FLNB gene | 42 days | LV1869 | +Info |
| Atelosteogenesis, type I | NGS and Sanger Sequencing of the FLNB gene | 42 days | LV1869 | +Info |
| Boomerang dysplasia | NGS and Sanger Sequencing of the FLNB gene | 42 days | LV1869 | +Info |
| Larsen syndrome | NGS and Sanger Sequencing of the FLNB gene | 42 days | LV1869 | +Info |
| Spondylocarpotarsal synostosis syndrome | NGS and Sanger Sequencing of the FLNB gene | 42 days | LV1869 | +Info |
| Asphyxiating thoracic dystrophy 2 (Jeune syndrome) | NGS and Sanger Sequencing of the IFT80 gene | 42 days | LV1895 | +Info |
| Neuronopathy, distal hereditary motor, type VI | NGS and Sanger Sequencing of the IGHMBP2 gene | 42 days | LV2461 | +Info |
| Deafness, autosomal recessive 77 | NGS and Sanger Sequencing of the LOXHD1 gene | 42 days | LV1925 | +Info |
| Cenani-Lenz syndactyly syndrome | NGS and Sanger Sequencing of the LRP4 gene | 42 days | LV1927 | +Info |
| Sclerosteosis 2 | NGS and Sanger Sequencing of the LRP4 gene | 42 days | LV1927 | +Info |
| Arthrogryposis, distal, type 1B | NGS and Sanger Sequencing of the MYBPC1 gene | 42 days | LV1947 | +Info |
| Aortic aneurysm, familial thoracic 4 | NGS and Sanger Sequencing of the MYH11 gene | 42 days | LV1948 | +Info |
| Atrial septal defect 3 | NGS and Sanger Sequencing of the MYH6 gene | 42 days | LV1952 | +Info |
| Cardiomyopathy, dilated, 1EE | NGS and Sanger Sequencing of the MYH6 gene | 42 days | LV1952 | +Info |
| Carney complex variant | NGS and Sanger Sequencing of the MYH8 gene | 42 days | LV1958 | +Info |
| Trismus-pseudocamptodactyly syndrome | NGS and Sanger Sequencing of the MYH8 gene | 42 days | LV1958 | +Info |
| Aortic aneurysm, familial thoracic 7 | NGS and Sanger Sequencing of the MYLK gene | 42 days | LV1965 | +Info |
| Deafness, autosomal recessive 3 | NGS and Sanger Sequencing of the MYO15A gene | 42 days | LV1966 | +Info |
| Deafness, autosomal recessive 30 | NGS and Sanger Sequencing of the MYO3A gene | 42 days | LV1968 | +Info |
| Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy | NGS and Sanger Sequencing of the MYO6 gene | 42 days | LV1969 | +Info |
| Deafness, autosomal dominant 22 | NGS and Sanger Sequencing of the MYO6 gene | 42 days | LV1969 | +Info |
| Deafness, autosomal recessive 37 | NGS and Sanger Sequencing of the MYO6 gene | 42 days | LV1969 | +Info |
| Deafness, autosomal dominant 11 | NGS and Sanger Sequencing of the MYO7A gene | 42 days | LV1972 | +Info |
| Deafness, autosomal recessive 2 | NGS and Sanger Sequencing of the MYO7A gene | 42 days | LV1972 | +Info |
| Usher syndrome, type 1B | NGS and Sanger Sequencing of the MYO7A gene | 42 days | LV1972 | +Info |
| Cardiomyopathy, dilated | NGS and Sanger Sequencing of the NEBL gene | 42 days | LV1977 | +Info |
| Short rib-polydactyly syndrome, type II | NGS and Sanger Sequencing of the NEK1 gene | 42 days | LV1978 | +Info |
| Alagille syndrome 2 | NGS and Sanger Sequencing of the NOTCH2 gene | 42 days | LV1979 | +Info |
| Hajdu-Cheney syndrome | NGS and Sanger Sequencing of the NOTCH2 gene | 42 days | LV1979 | +Info |
| 3-M syndrome 2 | NGS and Sanger Sequencing of the OBSL1 gene | 42 days | LV1984 | +Info |
| Deafness,autosomal recessive 9 and AR Auditory neuropathy type I | NGS and Sanger Sequencing of the OTOF gene | 42 days | LV2416 | +Info |
| Deafness, autosomal recessive 23 | NGS and Sanger Sequencing of the PCDH15 gene | 42 days | LV1989 | +Info |
| Usher syndrome, type 1F | NGS and Sanger Sequencing of the PCDH15 gene | 42 days | LV1989 | +Info |
| Microcephalic osteodysplastic primordial dwarfism, type II | NGS and Sanger Sequencing of the PCNT gene | 42 days | LV1992 | +Info |
| Polycystic Kidney Disease, Autosomal Dominant | NGS and Sanger sequencing of the PKD1 gene | 42 days | LV3452 | +Info |
| Severe combined immunodeficiency, T cell-negative, B-cell/natural kill | NGS and Sanger Sequencing of the PTPRC gene | 42 days | LV2017 | +Info |
| Deafness, autosomal recessive 84 | NGS and Sanger Sequencing of the PTPRQ gene | 42 days | LV2018 | +Info |
| Baller-Gerold syndrome | NGS and Sanger Sequencing of the RECQL4 gene | 42 days | LV2022 | +Info |
| RAPADILINO syndrome | NGS and Sanger Sequencing of the RECQL4 gene | 42 days | LV2022 | +Info |
| Rothmund-Thompson syndrome | NGS and Sanger Sequencing of the RECQL4 gene | 42 days | LV2022 | +Info |
| COACH syndrome | NGS and Sanger Sequencing of the RPGRIP1L gene | 42 days | LV2025 | +Info |
| Joubert syndrome 7 | NGS and Sanger Sequencing of the RPGRIP1L gene | 42 days | LV2025 | +Info |
| Meckel syndrome, type 5 | NGS and Sanger Sequencing of the RPGRIP1L gene | 42 days | LV2025 | +Info |
| Hypercholanemia, familial | NGS and Sanger Sequencing of the TJP2 gene | 42 days | LV2057 | +Info |
| Deafness, autosomal dominant 36 | NGS and Sanger Sequencing of the TMC1 gene | 42 days | LV2058 | +Info |
| Deafness, autosomal recessive 7 | NGS and Sanger Sequencing of the TMC1 gene | 42 days | LV2058 | +Info |
| Achondrogenesis, type IA | NGS and Sanger Sequencing of the TRIP11 gene | 42 days | LV2070 | +Info |
| Progressive familial heart block, type IB | NGS and Sanger Sequencing of the TRPM4 gene | 42 days | LV2071 | +Info |
| Arthrogryposis, renal dysfunction, and cholestasis 2 | NGS and Sanger Sequencing of the VIPAS39 gene | 42 days | LV2094 | +Info |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | NGS and Sanger Sequencing of the VPS33B gene | 42 days | LV2096 | +Info |
| Cutaneous telangiectasia and cancer syndrome, familial | NGS and Sanger Sequencing of theATRgene | 42 days | LV1733 | +Info |
| Seckel syndrome 1 | NGS and Sanger Sequencing of theATRgene | 42 days | LV1733 | +Info |
| Neurofibromatosis, type 1 | NGS and sequential detection of deletions and duplications by MLPA of the NF1 gene (gDNA) | 49 days | LV3971 | +Info |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome; Polymicrogyria (P) bilateral frontoparietal; P. symmetric or asymmetric; P. with seizures; P. with optic nerve hypoplasia; | NGS of 10 gene panel: ADGRG1, AKT3, DYNC1H1, HEPACAM, OCLN, PIK3R2, RTTN, TUBA8, TUBB2B, TUBB3 | 42 days | LV2981 | +Info |
| Intellectual Disability in: Dyskeratosis congenita; Cerebrotendinous xanthomatosis; Ichthyosis, spastic quadriplegia, and mental retardation; IFAP syndrome with or without Bresheck syndrome; | NGS of 11 gene panel: ALDH18A1, CYP27A1, DKC1, ELOVL4, FGFR2, MBTPS2, NSDHL, PIGL, PORCN, PYCR1, VCX3A | 42 days | LV3020 | +Info |
| ID with metabolic diseases: Congenital disorder of glycosylation Ip, IIA, Iq; Combined oxidative phosphorylation deficiency 7 (D); phenylketonuria; Cytochrome c oxidase D 1; Hyperornithinemia | NGS of 11 gene panel: ALG11, BCS1L, C12orf65, MGAT2, NDUFA1, PAH, SRD5A3, SCO2, SLC25A15, SLC2A1, UROC1 | 42 days | LV3025 | +Info |
| Cerebellar hypoplasia and mental retardation with or without quadruped | NGS of 11 gene panel: ATP8A2, CA8, CASK, DLG1, GAD1, GCK, IGF1, KANK1, MECP2, VLDLR, WDR81 | 42 days | LV2988 | +Info |
| Mental retardation (MR) with or without quadrupedal locomotion; Cerebral palsy, spastic quadriplegic; Encephalopathy, neonatal severe; Diabetes mellitus, permanent neonatal with MR; IGF1 deficien | NGS of 11 gene panel: ATP8A2, CA8, CASK, DLG1, GAD1, GCK, IGF1, KANK1, MECP2, VLDLR, WDR81 | 42 days | LV2988 | +Info |
| Meckel, Syndrome | NGS of 11 gene panel: B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM216, TMEM231, TMEM67. | 42 days | LV2982 | +Info |
| Adrenoleukodystrophy; Leukodystrophy, hypomyelinating; Hypomyelination, global cerebral; Deafness, dystonia, and cerebral hypomyelination (DDCH); | NGS of 12 gene panel: ABCD1, AIMP1, BCAP31, DARS, DARS2, FAM126A, GJC2, HSPD1, POLR3A, POLR3B, SLC25A12, TUBB4A. | 42 days | LV2990 | +Info |
| Intellectual Disability autosomal recessive syndromes: Mednik, Kufor-Rakeb, Temtamy, Marble Brain disease, Smith-Lemli-Opitz , Dyggve-Melchior-Clausen, Smith-McCort dysplasia, Ataxia posterior | NGS of 12 gene panel: AP1S1, ATP13A2, C12orf57, CA2, CA6, DHCR7, DYM, FLVCR1, HOXA1, IRX5,KIF1BP, MKKS | 42 days | LV3021 | +Info |
| Pontocerebellar hypoplasia; Dandy-Walker malformation; Mental retardation and microcephaly with pontine and cerebellar hypoplasia | NGS of 12 gene panel: CASK, CHMP1A, CDK16. EXOSC3, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1, ZIC1, ZIC4 | 42 days | LV3005 | +Info |
| Intellectual Disability X-linked | NGS of 124 gene panel: ABCD1, ACSL4, AFF2, AGTR2, AMMECR1, AP1S2, AR, ARHGEF6, ARHGEF9, ARX, ASMT, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BEX4, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, G6PD, GABRE, GDI1, GK, GPC3, GPC4, GRIA3, HCCS, HCFC1, HDAC6, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KIAA2022, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MAOB, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, NXF2, NXF5, OCRL, OFD1, OPHN1, OTC, P2RY8, PAK3, PDHA1, PGK1, PHF6, PHF8, PLP1, PLXNA3, PLXNB3, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RPS6KA3, RPS6KA6, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TIMM8A, TRPC5, TSPAN7, UBE2A, UPF3B, VCX3A, WDR45, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZIC3, ZMYM3, ZNF41, ZNF630, ZNF711, ZNF81. | 56 days | LV3027 | +Info |
| ID with metabolic diseases: Cerebral creatine deficiency (D); Methylcrotonyl-CoA carboxylase 2 D; Glycerol kinase D; Mucopolysaccharidosis II; N-terminal acetyltransferase D; Ornithine transc | NGS of 13 gene panel: ADSL, CYB5R3, GAMT, GATM, GK, IDS, MCCC2, NAA10, OTC, PDHA1, PGK1, SC5D, SLC6A8 | 42 days | LV3024 | +Info |
| Intellectual Disability, with epilepsy. | NGS of 13 gene panel: ARHGEF9, BCKDK, CNTNAP2, DLG1, DLGAP2, GRIN2A, KCNJ10, MEF2C, SLC4A10, SNIP1, SRPX2, STXBP1, SYN1. | 42 days | LV3002 | +Info |
| Intellectual Disability syndromes, autosomal dominant: Bohring-Opitz; CRI-DU-CHAT; Gilles de la Tourette; Koolen-De Vries; Birk-Barel dysmorphism; Williams-Beuren; Feingold; Phelan-McDermid; R | NGS of 13 gene panel: ASXL1, CACNA1C, CTNND2, EHMT1, IMMP2L, KANSL1, KCNK9, LIMK1, MYCN, SHANK3, RNF168, SATB2, TBX3 | 42 days | LV3015 | +Info |
| Congenital Stationary Night Blindness | NGS of 13 gene panel: CABP4, CACNA1F, CHM, GNAT1, GRK1, GRM6, NYX, PDE6B, RDH5, RHO, SAG, SLC24A1, TRPM1. | Consult | LV3181 | +Info |
| Intellectual Disability autosomal recessive syndromes: Griscelli type 1, Schindler type I, III, Kanzaki, Porphyria variegata, Kohlschutter-Tonz, COACH, Senior-Loken, Marinesco-Sjogren, DOOR sy | NGS of 13 gene panel: DCAF17, MYO5A, NAGA, PPOX, ROGDI, RPGRIP1L, SDCCAG8, SIL1, TBC1D24, UBR1, VPS13B, ZFYVE26, ZBTB24. | 42 days | LV3022 | +Info |
| AMME complex, Androgen insensitivity, Norrie disease, Lowe, CHILD, Oral-facial-digital syndrome Pelizaeus-Merzbacher disease, TARP, Coffin-Lowry, Stocco dos Santos, Allan-Herndon-Dudley, MR X- | NGS of 14 gene panel: AMMECR1, AR, MAOA, NDP, NSDHL, OCRL, OFD1, PLP1, RBM10, RPS6KA3, SHROOM4, SLC16A2, UPF3B, ZC4H2 | 42 days | LV3019 | +Info |
| Microcephaly (M) primary; M. with or without Chorioretinopathy, lymphedema, mental retardation; Mental retardation and M. with pontine and cerebellar hypoplasia; M. with capillary malformation sy | NGS of 16 gene panel: ASPM, CASC5, CASK, CDK19, CDK5RAP2, CENPJ, CEP135, CEP152, KIF11, MCPH1, PHC1, PNKP, STAMBP, STIL, WDR62, ZNF335. | 42 days | LV2987 | +Info |
| Peroxisome biogenesis disorder (Zellweger), Refsum disease, infantile, Adrenoleukodystrophy, Alagille syndrome. | NGS of 17 gene panel: ABCD1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, JAG1, NOTCH2. | 42 days | LV2995 | +Info |
| Albinism related syndromic and non-syndromic. | NGS of 17 gene panel: AP3B1, BLOC1S3, BLOC1S6,C10orf11, DTNBP1, GPR143, HPS1, HPS3, HPS4,HPS5, HPS6, LYST, OCA2, SLC24A5, SLC45A2,TYR, TYRP1. | 56 days | LV3477 | +Info |
| Intellectual Disability, X-linked, syndromes: FRAXE, Fried, FG, Fanconi anemia, Fragile X, Turner, Claes-Jensen, Nance-Horan, Siderius, Martin-Probst, Christianson, Snyder-Robinson, Nasciment | NGS of 18 gene panel: AFF2, AP1S2, CASK, FANCB, FMR1, HUWE1, KDM5C, NHS, PHF8, PORCN, PQBP1, PRPS1, RAB40AL, SLC9A6, SMS, UBE2A, TIMM8A, ZDHHC9. | 42 days | LV3018 | +Info |
| Angelman syndrome | NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2 | 42 days | LV3007 | +Info |
| Angelman; Angelman -like; Prader-Willi; Rett; Variant Rett; Mowat-Wilson; Pitt-Hopkins; Christianson; Kleefstra; Smith-Magenis, syndromes | NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2 | 42 days | LV3007 | +Info |
| Mowat-Wilson Syndrome | NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2 | 42 days | LV3007 | +Info |
| Prader-Willi syndrome | NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2 | 42 days | LV3007 | +Info |
| Rett syndrome | NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2 | 42 days | LV3007 | +Info |
| Smiht-Magenis Syndrome | NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2 | 42 days | LV3007 | +Info |
| Vitelliform macular dystrophy, adult-onset | NGS of 2 gene panel: BEST1, PRPH2 | Consult | LV3185 | +Info |
| Optic Atrophy, autosomal dominant | NGS of 2 gene panel: OPA1, OPA3 | 42 days | LV3177 | +Info |
| Polycystic Kidney Disease, Autosomal Dominant | NGS of 2 gene panel: PKD1, PKD2. | 42 days | LV3451 | +Info |
| Tuberous Sclerosis | NGS of 2 gene panel:TSC1, TSC2 | 42 days | LV3172 | +Info |
| Solid tumor | NGS of 2 genes in FFPE | 35 days | LV4348 | +Info |
| Hyperostosis Corticalis generalisata | NGS of 2 genes: LRP5, SOST | 42 days | LV2321 | +Info |
| Leber congenital amaurosis 10 | NGS of 20 gene panel: AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1. | 56 days | LV3182 | +Info |
| Joubert Syndrome | NGS of 23 gene panel: AHI1, ARL13B, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, INPP5E, KIF7, NPHP1, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423. | 42 days | LV2980 | +Info |
| Retinitis pigmentosa (autosomal dominant) | NGS of 26 gene panel: AIPL1, BEST1, CA4, CRX, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRKCG, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP9, RPE65, SEMA4A, SNRNP200, TOPORS. | 56 days | LV3178 | +Info |
| Retinitis pigmentosa (X-linked) | NGS of 3 gene panel: OFD1, RP2, RPGR. | Consult | LV3186 | +Info |
| Polycystic Kidney Disease, AD, AR | NGS of 3 gene panel: PKD1, PKD2, PKHD1. | 42 days | LV3428 | +Info |
| Treacher Collins 2, Syndrome | NGS of 3 gene panel: POLR1C, POLR1D, TCOF1 | 42 days | LV3012 | +Info |
| Treacher Collins syndrome | NGS of 3 gene panel: POLR1C, POLR1D, TCOF1 | 42 days | LV3012 | +Info |
| Pendred Syndrome | NGS of 3 gene panel: SLC26A4, KCNJ10, FOXI1 | 42 days | LV2415 | +Info |
| Craniosynostosis | NGS of 3 genes: EFNB1, MSX2, TWIST1 | 42 days | LV2322 | +Info |
| Cone-Rod Dystrophy | NGS of 32 gene panel: ABCA4, ADAM9, AIPL1, BEST1, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, C8ORF37, CRX, GNAT2, GUCA1A, GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR (ORF15 excluded), RPGRIP1, SEMA4A, UNC119. | 56 days | LV3180 | +Info |
| Stargardt Syndrome | NGS of 4 gene panel: ABCA4, CNGB3, ELOVL4, PROM1. | 46 days | LV3184 | +Info |
| Cholestasis, intrahepatic and Alagille syndrome | NGS of 4 gene panel: ABCB11, ATP8B1, ABCB4, JAG1. | 42 days | LV2455 | +Info |
| Alpha-Thalassemia, G6PD deficiency, Lesch-Nyhan syndrome, Danon disease. | NGS of 4 gene panel: ATRX, G6PD, HPRT1, LAMP2. | 42 days | LV3017 | +Info |
| Juvenile polyposis syndrome | NGS of 4 gene panel: BMPR1A, GREM1, PTEN, SMAD4and MLPA confirmation of CNVs previously detectedin BMPR1A, PTEN, SMAD4 genes | 42 days | LV3630 | +Info |
| Homocystinuria, Methylmalonic acidemia and homocysteinemia, Homocystinuria-megaloblastic anemia. | NGS of 4 gene panel: CBS, HCFC1, MTHFR, MTR | 42 days | LV2999 | +Info |
| Homocystinuria, Methylmalonic acidemia and homocysteinemia, Homocystinuria-megaloblastic anemia. | NGS of 4 gene panel: CBS, HCFC1, MTHFR, MTR | 42 days | LV2999 | +Info |
| Warburg micro syndrome 1, 2, 3, 4 | NGS of 4 gene panel: RAB18, RAB3GAP1, RAB3GAP2, TBC1D20 | 42 days | LV3023 | +Info |
| Neuronal migration defects | NGS of 45 gene panel: ADGRG1, AKT3, ALX4, ATP7A, ARX, CASK, CDK16, CDON, CHMP1A, EMX2, DKK1, DCX, DYNC1H1, EXOSC3, FLNA, GLI2, HCCS, HEPACAM, IGBP1, LAMB1, L1CAM, PAFAH1B1, PTCH1, OCLN, PIK3R2, RARS2, RELN, RTTN, SEPSECS, SHH, SIX3, TGIF1, TSEN2, TSEN34, TSEN54, TUBA8, TUBB2B, TUBB3, TUBA1A, VRK1, YWHAE, ZIC1, ZIC2, ZIC3, ZIC4, | 42 days | LV3026 | +Info |
| Robinow; Aarskog-Scott; Opitz GBBB; KBG, syndromes | NGS of 5 gene panel: ANKRD11, FGD1, MID1, ROR2, WNT5A | 42 days | LV3014 | +Info |
| Seckel syndrome | NGS of 5 gene panel: ATR, CENPJ, CEP152, NIN, RBBP8 | 42 days | LV2989 | +Info |
| Kabuki 1, 2; CHARGE; Townes-Brocks, syndromes | NGS of 5 gene panel: CHD7, KDM6A, KMT2D, MACROD2, SALL1 | 42 days | LV3013 | +Info |
| Kok disease, Alacrima, achalasia, and mental retardation syndrome, Pseudohypoparathyroidism Ib, Hypoparathyroidism-retardation-dysmorphism syndrome; Thyroid hormone resistance | NGS of 5 gene panel: GLRB, GMPPA, GNAS, TBCE, THRB | 42 days | LV3029 | +Info |
| Cornelia de Lange syndrome | NGS of 5 gene panel: HDAC8, NIPBL, RAD21, SMC1A, SMC3 | 42 days | LV2993 | +Info |
| Autosomal Recessive and Sporadic Retinitis Pigmentosa | NGS of 56 gene panel: ABCA4, ARL6, BEST1, C2orf71, C8ORF37, CA4, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GUCA1B, IDH3B, IMPDH1, IMPG2, KLHL7, LRAT, MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF513. | 63 days | LV3179 | +Info |
| Aicardi-Goutieres syndrome | NGS of 6 gene panel: ADAR4, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1 | 42 days | LV2979 | +Info |
| Central Hypoventilation Syndrome, Congenital | NGS of 6 gene panel: ASCL1, BDNF, EDN3, GDNF, PHOX2B, RET | 42 days | LV2986 | +Info |
| Blepharophimosis (B), epicanthus inversus, and ptosis; B-ptosis-intellectual disability syndrome; Say-Barber-Biesecker-Young-Simpson; Genitopatellar; Ohdo; Smith-Lemli-Opitz; Baraitser-Winter syn | NGS of 7 gene panel: ACTB, ACTG1, DHCR7, FOXL2, KAT6B, MED12, UBE3B | 42 days | LV2996 | +Info |
| Microphthalmia, syndromic; Optic nerve hypoplasia and abnormalities of the central nervous system; Chondrodysplasia with platyspondyly, hydrocephaly, and microphthalmia; Cerebellar ataxia wit | NGS of 7 gene panel: BCOR, HCCS, SOX2, STRA6, TUBA8, ZNF592, PAX6 | 42 days | LV2992 | +Info |
| Progressive external ophthalmoplegia, autosomal dominant | NGS of 7 gene panel: C10ORF2, OPA1, POLG, POLG2,RRM2B, SLC25A4, TYMP | 42 days | LV2160 | +Info |
| Nephronophthisis; Senior-Loken syndrome; Renal tubular acidosis, proximal, with ocular abnormalities; proximal renal tubular acidosis, mental retardation, and bilateral glaucoma; Ciliary dyski | NGS of 7 gene panel: CCDC40, INVS, NPHP1, SDCCAG8, SLC4A4, TTC21B, ZNF423 | 42 days | LV3028 | +Info |
| Waardenburg syndrome | NGS of 7 gene panel: EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR | 42 days | LV2994 | +Info |
| Albinism related syndromic and non-syndromic. | NGS of 7 gene panel: TYR, OCA2, TY$P1, SLC45A2, SLC24A5, C10orf11, GPR143 | Consult | LV3183 | +Info |
| Hypercholesterolemia, familial | NGS of 8 gene panel: ABCG5, ABCG8, APOB,APOE, CYP7A1, LDLR, LDLRAP1, PCSK9. | 42 days | LV3368 | +Info |
| Hydrocephalus (H), nonsyndromic; H. due to aqueductal stenosis; H. with congenital idiopathic intestinal pseudoobstruction; Hydranencephaly with abnormal genitalia; | NGS of 8 gene panel: AKT3, ARX, CCDC88C, HCCS, HDAC6, L1CAM, MPDZ, PIK3R2. | 42 days | LV3003 | +Info |
| Hydrocephalus due to aqueductal stenosis, Hirschsprung disease, Corpus callosum, partial agenesis of, Congenital cataracts, hearing loss, and neurodegeneration | NGS of 8 gene panel: AKT3, ARX, CCDC88C, HCCS, HDAC6, L1CAM, MPDZ, PIK3R2. | 42 days | LV3003 | +Info |
| Hydrocephalus due to aqueductal stenosis | NGS of 8 gene panel: AKT3, ARX, CCDC88C, HCCS, HDAC6, L1CAM, MPDZ, PIK3R2. | 42 days | LV3003 | +Info |
| Agenesis of the corpus callosum with: Frontonasal dysplasia ; Microphthalmia, syndromic 7; Mental retardation 28; Menkes disease, Occipital horn syndrome, VACTERL association. | NGS of 8 gene panel: ALX4, ATP7A, DYNC1H1, HCCS, IGBP1, L1CAM, YWHAE, ZIC3. | 42 days | LV3011 | +Info |
| Hermansky-Pudlak syndrome | NGS of 8 gene panel: AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS4, HPS5, HPS6 | 42 days | LV2983 | +Info |
| Coffin-Siris syndrome; Hyperphosphatasia with mental retardation syndrome | NGS of 8 gene panel: ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, PGAP2, PIGO, PIGV | 42 days | LV2984 | +Info |
| Intellectual Disability, X-linked, syndromes: Partington, Proud, Hedera, Menkes, Oculofaciocardiodental, Lubs, Rett, Lujan-Fryns, Opitz-Kaveggia, Opitz GBBB, Borjeson-Forssman-Lehmann. | NGS of 8 gene panel: ARX, ATP6AP2, ATP7A, BCOR, MECP2, MED12, MID1, PHF6 | 42 days | LV3016 | +Info |
| Lissencephaly; Subcortical laminar heterotopia; Periventricular heterotopia. | NGS of 8 gene panel: ARX, DCX, FLNA, LAMB1, PAFAH1B1, RELN, TUBA1A, YWHAE | 42 days | LV2985 | +Info |
| Neurodegeneration with brain iron accumulation 1 | NGS of 8 gene panel: C19orf12, COASY, FOLR1, FTL, NALCN, PANK2, PLA2G6, WDR45 | 42 days | LV3000 | +Info |
| Neurodegeneration with brain iron accumulation; Neurodegeneration due to cerebral folate transport deficiency; Neuroaxonal neurodegeneration, infantile, with facial dysmorphism. | NGS of 8 gene panel: C19orf12, COASY, FOLR1, FTL, NALCN, PANK2, PLA2G6, WDR45 | 42 days | LV3000 | +Info |
| Angelman syndrome | NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRB3, GABRG3, MECP2, MBD5, UBE3A | 42 days | LV3008 | +Info |
| Angelman, Angelman syndrome-like, Prader-Willi, Rett y Variant Rett, syndromes | NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRB3, GABRG3, MECP2, MBD5, UBE3A | 42 days | LV3008 | +Info |
| Prader-Willi syndrome | NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRB3, GABRG3, MECP2, MBD5, UBE3A | 42 days | LV3008 | +Info |
| Rett syndrome | NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRB3, GABRG3, MECP2, MBD5, UBE3A | 42 days | LV3008 | +Info |
| Mental retardation witn skeletal dysplasia: Apert; Beare-Stevenson cutis gyrata; Saethre-Chotzen; Muenke; FG 2; Rubinstein-Taybi; Craniofacial dysmorphism, skeletal anomalies, and MR; | NGS of 8 gene panel: CREBBP, FGFR2, FGFR3, HCCS, HDAC6, SLC35A3, TMCO1, ZBTB16 | 42 days | LV3009 | +Info |
| Axenfeld-Rieger; Otopalatodigital; Velocardiofacial; Speech-language disorder-1; Orofacial cleft 7; Orofaciodigital syndrome; Branchiooculofacial, syndromes | NGS of 8 gene panel: FOXC1, PITX2, FLNA, TBX1, FOXP2, PVRL1, TCTN3, TFAP2A | 42 days | LV3010 | +Info |
| Intellectual disability with macrosomia: Simpson-Golabi-Behmel, Sotos, Weaver syndrome, Lujan-Fryns, Marshall-Smith syndromes | NGS of 8 gene panel: GPC3, GPC4, OFD1, EZH2, NRCAM, NFIX, NSD1, MED12 | 42 days | LV3004 | +Info |
| Simpson-Golabi-Behmel Syndrome | NGS of 8 gene panel: GPC3, GPC4, OFD1, EZH2, NRCAM, NFIX, NSD1, MED12 | 42 days | LV3004 | +Info |
| Holoprosencephaly; Schizencephaly | NGS of 9 gene panel: CDON, EMX2, DKK1, GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2 | 42 days | LV3006 | +Info |
| Holoprosencephaly | NGS of 9 gene panel: CDON, EMX2, DKK1, GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2 | 42 days | LV3006 | +Info |
| Schizencephaly | NGS of 9 gene panel: CDON, EMX2, DKK1, GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2 | 42 days | LV3006 | +Info |
| Solid tumor | NGS of a 161 gene panel associated with solid tumors and treatment association.
Complete genes: ARID1A, ATM, ATR, ATRX, BAP1, CDK12, CDKN1B, CHEK1, CREBBP, FANCA, FANCD2, FANCI, FBXW7, MLH1, MRE11A, MSH2, MSH6, NBN, NF2, NOTCH2, NOTCH3, PALB2, PIK3R1, PMS2, POLE, PTCH1, RAD50, RAD51, RAD51C, RAD51D, RNF43, SETD2, SLX4, SMARCA4, SMARCB1, STK11, TP53 .
Specific mutations (hotspots): ARAF, BTK, CBL, CHEK2, CSF1R, CTNNB1, DDR2, ERBB3, ERCC2, EZH2, FOXL2, GATA2, GNA11, GNAQ, GNAS, H3F3A, HIST1H3B, HNF1A, HRAS, IDH1, IDH2, JAK1, JAK3, KDR, KNSTRN, MAGOH, MAP2K1, MAP2K2, MAP2K4, MAPK1, MAX, MED12, MTOR, MYD88, NFE2L2, NRAS, PPP2R1A, PTPN11, RAC1, RHEB, RHOA, SF3B1, SMAD4, SMO, SPOP, SRC, STAT3, TOP1, U2AF1, XPO1 .
Copy number variation (CNVs): CCND2, CCND3, CCNE1, CDK2, FGF19, FGF3, IGF1R, MDM2, MYCL, RICTOR
.Relocations (translocations/fusions): ERG, ETV1, ETV4, ETV5, FGR, MYB, MYBL1, NOTCH4, NRG1, NUTM1, PRKACA, PRKACB, RELA, RSPO2, RSPO3 | 35 days | LV4350 | +Info |
| Solid tumor | NGS of a 198 gene panel associated with pediatric tumors, sarcomas and haematological neoplasms. Complete genes: APC, ARID1A, ARID1B, ATRX, CDKN2A, CDKN2B, CEBPA, CHD7, CRLF1, DDX3X, DICER1, EBF1, EED, FAS, GATA1, GATA3, GNA13, ID3, IKZF1, KDM6A, MYOD1, NF1, NF2, PHF6, PRPS1, PTCH1, PTEN, RB1, SMARCA4, SMARCB1, SOCS2, SUFU, SUZ12, TET2, TP53, TSC1, TSC2, WT1, XIAP. Specific mutations : ACVR1, AKT1, ASXL1, ASXL2, CALR, CBL, CCND3, CCR5, CSF3R, CTNNB1, DAXX, DNMT3A, EP300, ERBB4, ESR1, EZH2, FASLG, FBXW7, GATA2, GNAQ, H3F3A, HDAC9, HIST1H3B, HRAS, IDH1, IDH2, IL7R, JAK1, JAK3, KDM4C, KDR, MAP2K1, MPL, MSH6, MTOR, NCOR2, NRAS, NT5C2, PIK3R1, PPM1D, PTPN11, RHOA, SETBP1, SETD2, SH2B3, SH2D1A, SMO, STAT3, STAT5B, TERT, TPMT, USP7, ZMYM3. Copy number variation : CDK6, GLI2, MDM2, MDM4. Relocations (translocations/fusions): BCL11B, BCOR, BCR, CAMTA1, DUSP22, ETV6, EWSR1, FOSB, FUS, GLIS2, HMGA2, KAT6A, KMT2A, KMT2B, KMT2C, LMO2, MAML2, MAN2B1, MECOM, MEF2B, MKL1, MLLT10, MN1, MYB, MYBL1, MYH11, MYH9, NCOA2, NCOR1, NOTCH2, NOTCH4, NR4A3, NTRK1, NTRK2, NTRK3, NUP214, NUP98, NUTM1, NUTM2B, PAX3, PAX7, PDGFB, PLAG1, RANBP17, RECK, RELA, ROS1, SS18, SSBP2, STAG2, STAT6, TAL1, TFE3, TP63, TSLP, TSPAN4, UBTF, USP6, YAP1, ZMYND11, ZNF384. Expression changes: BCL2, BCL6, TOP2A | 35 days | LV4228 | +Info |
| Family cancer predisposition | NGS of a 29-gene panel: APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53. Sanger sequencing, and detection of deletions and duplications by MLPA in the PMS2 gene. | 42 days | LV4070 | +Info |
| Hypercholesterolemia, familial | NGS of a 3-gene panel: APOB, LDLR and PCSK9 | 42 days | LV3931 | +Info |
| Leukaemia | NGS of a 36 gene panel and 24 structural alterations associated with Acute Myeloid Leukemia. Complete genes: ANKRD26, DDX41, EPOR, ETV6, EZH2, NF1, TET2, ZRSR2. Partial genes: ABL1, ASXL1, CALR, CBL, CEBPa, CSF3R, DNMT3A, ETNK1, FLT3, GATA2, IDH1, IDH2, IKZF1, JAK2, KIT, KMT2A, KRAS, MPL, NPM1, NRAS, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, TP53, VHL, WT1. Structural: 14 specific translocations and large deletions on chromosomes 4, 5, 7, 11, 12, 17 and 20, aneusomies on chromosomes 8 and 19 and inversions on chromosome 17. | 35 days | LV4208 | +Info |
| Leukaemia | NGS of a 62 gene panel associated with Acute Myeloid Leukemia. Complete genes: AKAP13, BCOR, BCORL1, BRAF, CA9, CEBPA,TET2, CNOT3, CREBBP, CUX1, DNAH9, DNMT3A, ELF4, EZH2, FMN2, GNAS, GNB1, HTT, LTA4H, MAP1B, MAP2K1, MAZ, MYD88, NF1, NOTCH1, PHF6, POU2F2, POU4F1, PPM1D, RAF1, RIT1, SETBP1, SETD2, SETDB1, SHOC2, SMC3, SOS1, STAG1, STAG2, TLR9, TP53, ZRSR2. Partial genes: ASXL1, CALR, CBL, CSF3R, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, KMT2A, MPL, NPM1, NRAS, PTPN11, RUNX1, SF3B1, SRSF2, U2AF1, WT1 | 35 days | LV4207 | +Info |
| Leukaemia | NGS of a 62-gene panel for Acute Myeloid Leukemia (point variants) | 35 days | LV3882 | +Info |
| Leukaemia | NGS of amplicons in 36 genes for point variants and 27 structural alterations associated with AML | 35 days | LV3883 | +Info |
| CHARGE Syndrome | NGS of CHD7 gene | 28 days | LV3930 | +Info |
| Rubinstein-Taybi Syndrome | NGS of CREBBP gene | 28 days | LV4049 | +Info |
| Neurofibromatosis, type 1 | NGS of NF1 gene | 28 days | LV4044 | +Info |
| Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) | NGS of NOTCH3 gene | 28 days | LV3973 | +Info |
| Solid tumor | NGS of one gene in FFPE | 35 days | LV4347 | +Info |
| Treacher Collins syndrome | NGS of TCOF1 gene | 35 days | LV3204 | +Info |
| Cohen Syndrome | NGS of the VPS13B (COH1) gene | 42 days | LV1552 | +Info |
| Ehlers-Danlos syndrome type 1 | NGS of two genes: COL5A1, COL5A2. | 42 days | LV2949 | +Info |
| Cystic Fibrosis | NGS sequencing of the CFTR gene | 35 days | LV3427 | +Info |
| Custom Panel | NGS, Advanced Bioinformatics analysis and Report and variant verification more than 99 genes. | 54 days | LV2937 | +Info |
| Custom Panel | NGS, Advanced Bioinformatics analysis and Report and variant verification one gen. | 28 days | LV3441 | +Info |
| Custom Panel | NGS, Advanced Bioinformatics analysis and Report and variant verification up to 22 genes. | 42 days | LV2934 | +Info |
| Custom Panel | NGS, Advanced Bioinformatics analysis and Report and variant verification up to 49 genes. | 42 days | LV2935 | +Info |
| Custom Panel | NGS, Advanced Bioinformatics analysis and Report and variant verification up to 5 genes. | 42 days | LV2933 | +Info |
| Custom Panel | NGS, Advanced Bioinformatics analysis and Report and variant verification up to 99 genes. | 42 days | LV2936 | +Info |
| Custom Panel | NGS, Advanced Bioinformatics analysis and results delivery through Genesys. | 14 days | LV2932 | +Info |
| Ceroid lipofuscinosis | NGS of 10 gene panel: ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, MFSD8, PPT1, TPP1. | 42 days | LV3515 | +Info |
| Congenital disorder of glycosylation, type II and Wrinkly skin syndrome | NGS of 10 gene panel: ATP6V0A2, B4GALT1, COG1, COG7, COG8, MGAT2, MOGS, SLC35A1, SLC35C1, TUSC3 | 42 days | LV3514 | +Info |
| Epilepsy, idiopathic generalized and Epilepsy, juvenile myoclonic, | NGS of 10 gene panel: CACNB4, CLCN2, CHRNA7, CNTN2, GABRA1, GABRD, GABRB3, GABRG2, SLC2A1, TBC1D24, | 42 days | LV3405 | +Info |
| Epilepsy, frontal or temporal lobes | NGS of 10 gene panel: CHRNA2, CHRNA4, CHRNB2, DEPDC5, GABBR1, GABBR2, KCNT1, LGI1, TNK2, SLC12A2 | 42 days | LV3414 | +Info |
| Mitochondrial complex IV deficiency | NGS of 10 gene panel: COA5, COX10, COX14, COX20, COX6B1, FASTKD2, PET100, SCO1, SCO2, TACO1. | 42 days | LV3260 | +Info |
| Combined immunodeficiency with impaired lymphoproliferation | NGS of 10 gene panel: RMRP,DOCK8,RHOH,STK4,TRAC,LCK,MALT1,IL21R,CARD11,MAGT1 | 42 days | LV3717 | +Info |
| Xeroderma Pigmentosum, COFS, Cockayne and De Sanctis-Cacchione syndromes | NGS of 10 gene panel: DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, POLH, XPA, XPC | 42 days | LV3637 | +Info |
| Hereditary Cáncer Syndromes | NGS of 111 gene panel:APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A,BRCA1, BRCA2, BRIP1, BUB1, CDH1, CDK4, CDKN1B,CDKN2A, CHEK2, DDB2, DICER1, DIS3L2, DKC1, ELANE, EPAS1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5,ERCC6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF,FANCG, FANCI, FANCL, FANCM, FH, FLCN, G6PC3, GFI1,GREM1, HOXB13, JAGN1, KIF1B, KIT, MAX, MDH2, MEN1, MET, MITF, MLH1, MNX1, MSH2, MSH6, MSR1, MUTYH, NBN, NF2, NFIX, NHP2, NOP10, NSD1, NTHL1, PALB2,PARN, PDGFRA, PMS1, POLD1, POLE, POLH, POT1,PRKAR1A, PTCH1, PTEN, RAD50, RAD51, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, RTEL1, SCG5,SLX4, SMAD4, SMARCA4, STK11, SUFU, TERC, TERT,TINF2, TMEM127, TP53, TSC1, TSC2, UBE2T, VHL,VPS45, WAS, WRN, WT1, XPA, XPC, XRCC2 | 56 days | LV3651 | +Info |
| Syndromes in Pediatric Oncology: Wilms, Bloom, Sotos, Nijmgen, Perlman, Currarino, Rothmund-Thomson, Werner. | NGS of 11 gene panel: BLM, NBN, NSD1, RAD50, WT1, DIS3L2, MNX1, NFIX, RECQL4, WRN, SMARCA4 | 42 days | LV3644 | +Info |
| Antibody deficience. Severe reduction in at least two serum isotypes with normal or low number of B lymphocytes. | NGS of 11 gene panel: ICOS,CD19,CD81,CD20,CD21,TNFRSF13B,LRBA,TNFRSF13C,TNFSF12,NFKB2,CXCR4 | 42 days | LV3689 | +Info |
| Combined immunodeficiency with abnormal B and T cells subpopulations | NGS of 11 gene panel: UNC119,PIK3CD,DOCK8,STK4,TNFRSF4,LRBA,SH2D1A,CD40,CD40LG,CD27,IKBKB | 42 days | LV3715 | +Info |
| Mucopolysaccharidosis types: Morquio, Scheie, Hurler, Hurler-Scheie, Maroteaux¦Lamy, Sly, Sanfilippo A, B, C, D, Hunter y IX. | NGS of 11 gene panel: ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH. | 42 days | LV3498 | +Info |
| Epilepsy: genes in investigation | NGS of 12 gene panel: ADAM22, GABRB1, GABRB2, GABRA6, GABRE, GABRG1, GABRP, GABRQ, GABRR1, GABRR2, GABRR3, VDAC1 | 42 days | LV3424 | +Info |
| Lysosomal metabolic disorders: Aspartylglucosaminuria, Cystinosis, Galactosialidosis, Cerebral creatine deficiency, Sialuria, Malonyl-CoA decarboxylase deficiency, Mevalonic acid | NGS of 12 gene panel: AGA, CTNS, CTSA, GAMT, GATM, GNE, MLYCD, MVK, SLC17A5, SLC6A8, SUMF1, XDH | 42 days | LV3502 | +Info |
| Epilepsy, progressive myoclonic, Lafora and Unverricht and Lundborg types | NGS of 12 gene panel: ASAH1, CERS1, CSTB, EPM2A, EPM2AIP1, GOSR2, KCNC1, KCTD7, NHLRC1, PRICKLE1, PRICKLE2, SCARB2. | 42 days | LV3404 | +Info |
| Epilepsy related with Ceroid lipofuscinosis, neuronal | NGS of 12 gene panel: ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, MFSD8, PPT1, TPP1. | 42 days | LV3412 | +Info |
| Methylmalonic aciduria and Ethylmalonic encephalopathy | NGS of 13 gene panel: ABCD4, CD320, LMBRD1, MCEE, MMAA, MMAB, MMACHC, MMADHC, MUT, PCCA, PCCB, SUCLA2, SUCLG1 | 42 days | LV3266 | +Info |
| Epilepsy related with metabolic disorders | NGS of 13 gene panel: ADSL, ARG1, ALDH5A1, BCKDHB, BTD, D2HGDH, FARS2, GAD2, GLB1, GLUL, PGK1, PSAT1, SUOX. | 42 days | LV3411 | +Info |
| Methylglutaconic Aciduria and 3-Methylcrotonyl-CoA carboxylase deficiency | NGS of 13 gene panel: AGK, ATP5E, ATPAF2, AUH, DNAJC19, MCCC1, MCCC2, OPA3, POLG, SERAC1, SUCLA2, TAZ, TMEM70 | 42 days | LV3267 | +Info |
| Mitochondrial DNA depletion syndromes | NGS of 13 gene panel: AGK, C10orf2, DGUOK, FBXL4, MGME1, MPV17, POLG, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TYMP | 42 days | LV3253 | +Info |
| Cortical dysplasia an other CNS malformations | NGS of 13 gene panel: ATP7A, ARFGEF2, CNTNAP2,DEPDC5, ERMARD, FLNA, KIF2A, KIF5C, STAMBP, TUBB, TUBB2A, TUBB3, TUBG1 | 42 days | LV3415 | +Info |
| Combined immunodeficiency with anomalous antibody levels | NGS of 13 gene panel: PIK3CD,CD40,PNP,ITK,RMRP,DOCK8,STK4,LCK,CARD11,IKBKB,LRBA,CD27,CD40LG, | 42 days | LV3719 | +Info |
| Phospholipid disorders: PHARC, MNGIE TYPE, Sjogren-Larsson, Neurodegeneration with brain iron accumulation, Spastic paraplegia, GM3 synthase deficiency, HSAN1, Myoglobinur | NGS of 14 gene panel: ABHD12, ABHD5, AGK, CHKB, ELOVL4, FA2H, LPIN1, PANK2, PLA2G6, PNPLA6, ST3GAL5, SPTLC1, SPTLC2, TAZ | 42 days | LV3506 | +Info |
| Aicardi-Goutieres 1, Alpers, Bartter, Griscelli, Kohlschutter-Tonz, Martsolf, Menkes, Neu-Laxova, Pitt-Hopkins, SANDO, Sesame, Warburg micro syndromes | NGS of 15 gene panel: ATP7A, CNTNAP2, KCNJ1, KCNJ10, MYO5A, NRXN1, POLG, PSAT1, RAB27A, RAB3GAP1, RAB3GAP2, ROGDI, SLC12A1, TCF4, TREX1. | 42 days | LV3419 | +Info |
| Peroxisome biogenesis disorder, Adrenoleukodystrophy, Refsum disease neonatal e infantil, Rhizomelic chondrodysplasia punctata 1 | NGS of 15 gene panel: ABCD1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7. | 42 days | LV3508 | +Info |
| Congenital disorder of glycosylation, type I | NGS of 15 gene panel: ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DPAGT1, DPM1, DPM3, MPDU1, MPI, PMM2, RFT1, SRD5A3. | 42 days | LV3513 | +Info |
| Familial Hypercholesterolemia and hyperlipidemia, mixed and detection of Statin myopathy | NGS of 16 gene panel: ABCG5, ABCG8, APOB, APOE, CH25H, CYP7A1, INSIG2, LDLR, LDLRAP1, LIPA, NPC1, NPC2, OSBPL5, PCSK9, STAP1, SLCO1B1 | 42 days | LV3390 | +Info |
| Sphingolipidosis: Gaucher, Metachromatic leukodystrophy, Krabbe, Niemann Pick, Fabry, Tay-Sachs, Sandhoff, Gangliosidosis, Farber, Wolman. | NGS of 17 gene panel: ARSA, ASAH1, GALC, GBA, GBA2, GBA3, GLA, GLB1, GM2A, HEXA, HEXB, LIPA, NAGA, NPC1, PSAP, SCARB2, SMPD1. | 42 days | LV3499 | +Info |
| Autoimmflamatory syndroms | NGS of 18 gene panel: CARD14,HOIL1,IL10,IL10RA,IL10RB,IL10RN,IL36RN,LPIN2,MEFV,MVK,NLRP12,NLRP3,NOD2,PLCG2,PSMB8,PSTPIP1,SH3BP2,TNFRSF1 | 42 days | LV3726 | +Info |
| Epilepsy: genes associated to diagnosis and treatment | NGS of 200 gene panel: ABAT, ADAM22, ADSL, ALDH5A1, ALDH7A1, ALG13, AMT, ARFGEF2, ARG1, ARHGEF15, ARHGEF9, ARX, ASAH1, ATP13A2, ATP7A, BCKDHB, BRAT1, BTD, CACNA1A, CACNA2D2, CACNB4, CASK, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTN2, CNTNAP2, ,CSNK1G1 , CSTB, CTSD, CTSF, D2HGDH, DEPDC5, DNAJC5, DNM1, DOCK7, DYNC1H1, EEF1A2, EPM2A, EPM2AIP1, ERMARD, FARS2, FLNA, FOLR1, FOXG1, FUCA1, GABBR1, GABBR2, GABRA1, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ, GABRR1, GABRR2, GABRR3, GAD2, GAMT, GATM, GCSH, GLB1, GLDC, GLRA1, GLRB, GLUL, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HCN2, HCN3, HCN4, HNRNPU, KCNA2, KCNAB1, KCNB1, KCNC1, KCNH2, KCNH5, KCNJ1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD7, KIF2A, KIF5C, KPNA7, LGI1, MAGI2, MAPK10, MBD5, MECP2, MED17, MEF2C, MFSD8, MOCS1, MOCS2, MTOR, MYO5A, NECAP1, NEDD4L, NEU1, NHLRC1, NRXN1, PCDH19, PGK1, PIGA, PIGN, PIGQ, PIGT, PLCB1, PMM2, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRICKLE2, PRRT2, PSAT1, PURA, RAB27A, RAB3GAP1, RAB3GAP2, RBFOX1, RBFOX3, RFT1, ROGDI, SCARB2, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCN8A, SCN9A, SERPINI1, SLC12A1, SLC12A2, SLC12A7, SLC13A5, SLC25A22, SLC2A1, SLC35A2, SLC4A10, SLC6A5, SLC6A8, SNIP1, SPTAN1, SRGAP2, SRPX2, ST3GAL3, ST3GAL5, STAMBP, STXBP1, SUOX, SYN1, SYNGAP1, SZT2, TBC1D24, TCF4, TNK2, TPP1, TREX1, TUBB, TUBB2A, TUBB3, TUBG1, UBE3A, VDAC1, WWOX, EPHX1, CYP2C19, CYP2C9, CYP2D6 | 56 days | LV3425 | +Info |
| Combined oxidative phosphorylation deficiency | NGS of 22 gene panel: AARS2, AIFM1, C12orf65, EARS2, ELAC2, FARS2, GFM1, LYRM4, MARS2, MRPL3, MRPL44, MRPS16, MRPS22, MTFMT, MTO1, PNPT1, RMND1, SFXN4, TARS2, TSFM, TUFM, VARS2. | 42 days | LV3263 | +Info |
| Progressive External Ophthalmoplegia (PEO) and Optic Atrophy | NGS of 23 gene panel: ACO2, AUH, C10ORF2 , DNA2, C12ORF65, CISD2, MFN2, MTPAP, NDUFS1, OPA1, OPA3, POLG, POLG2, REEP1, RRM2B, SLC19A3, SLC25A4, SPG7, TIMM8A, TK2, TMEM126A, TYMP, WFS1 | 42 days | LV3255 | +Info |
| Mitochondrial complex I deficiency | NGS of 27 gene panel: ACAD9, COA6, ECSIT, FOXRED1, NDUFA1, NDUFA11, NDUFA2, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB7, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS8, NDUFV1, NDUFV2, NUBPL | 42 days | LV3258 | +Info |
| Epilepsy associated to intellectual disabilities | NGS of 29 gene panel: ABAT, CASK, CDKL5, DYNC1H1, FOXG1, GABRA5, GABRG3, GRIN1, GRIN2A, GRIN2B,MBD5, MECP2, MED17, MEF2C, MTOR, NEU1, PIGN, PIGT, PURA, RBFOX1, RBFOX3, SLC4A10, SNIP1, SRGAP2, SRPX2, ST3GAL5, SYN1, SYNGAP1, UBE3A. | 42 days | LV3418 | +Info |
| Autoimmue diseases without lymphoproliferation | NGS of 2 gene panel: AIRE,ITCH | 42 days | LV3695 | +Info |
| Ataxia Telangiectasia | NGS of 2 gene panel: ATM, ATR. | 42 days | LV3627 | +Info |
| Sarcoma, familial | NGS of 2 gene panel: DICER1, POT1. | 42 days | LV3649 | +Info |
| Epidermodysplasia verruciformis | NGS of 2 gene panel: EVER1,EVER2 | 42 days | LV3707 | +Info |
| Cerebral folate transport deficiency | NGS of 2 gene panel: FOLR1, FUCA1 | 42 days | LV3420 | +Info |
| Defects of innate immunity. TIR signaling pathway deficiency. | NGS of 2 gene panel: IRAK4, MYD88 | 42 days | LV3706 | +Info |
| Anhidrotic ectodermal dysplasia with immunodeficiency | NGS of 2 gene panel: NEMO,IKBA | 42 days | LV3705 | +Info |
| Antibody deficience. Isotype or light chain deficiencies with generally normal numbers of B lymphocytes. | NGS of 2 gene panel: PRKDC,PIK3CD | 42 days | LV3691 | +Info |
| Basal cell nevus syndrome, Gorlin syndrome | NGS of 2 gene panel: PTCH1, SUFU | 42 days | LV3645 | +Info |
| Phenocopies of primary immunodeficiency diseases associated with somatic mutations and with autoantibodies. | NGS of 2 gene panel: TNFRSF6,AIRE | 42 days | LV3713 | +Info |
| Wiskott-Aldrich Syndromes 1 and 2 | NGS of 2 gene panel: WAS,WIPF1 | 42 days | LV3682 | +Info |
| Defects ?-oxidation of fatty acids: Refsum disease, Phytanoyl-CoA hydroxilase | NGS of 2 gene panel: PHYH, PEX7. | 42 days | LV3511 | +Info |
| Leigh syndrome (nuclear type) | NGS of 30 gene panel: AIFM1, BCS1L, COX10, COX15, FOXRED1, LRPPRC, NDUFA1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, PC, PDHA1, PET100, SCO2, SDHAF1, SURF1, TACO1, TTC19, UQCRQ, | 42 days | LV3256 | +Info |
| Leigh-like syndrome (nuclear type) | NGS of 35 gene panel: ACAT1, AIFM1, AFG3L2, C12orf65, CA5A, DLD, EARS2, ETHE1, FARS2, FBXL4, GFM1, HSD17B10, LARS, LIAS, MARS, MTFMT, NDUFA1, PDHA1, PDHB, PDHX, PDSS2, PNPT1, POLG, SARS2, SERAC1, SLC19A3, SLC25A19, SLC25A13, SLC25A15, SUCLA2, SUCLG1, TPK1, TRMU, TSFM, UNG | 42 days | LV3257 | +Info |
| Glycine encephalopathy | NGS of 3 gene panel: AMT, GCSH, GLDC | 42 days | LV3408 | +Info |
| Hydroxyglutaric aciduria | NGS of 3 gene panel: D2HGDH, IDH2, SLC25A1 | 42 days | LV3271 | +Info |
| Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with or without methylmalonic aciduria) | NGS of 3 gene panel: FBXL4, SUCLA2, SUCLG1 | 42 days | LV3250 | +Info |
| Genetic defects of regulatory T lymphocytes | NGS of 3 gene panel: FOXP3,IL2RA,STAT5B | 42 days | LV3694 | +Info |
| Cerebral creatine deficiency | NGS of 3 gene panel: GAMT, GATM, SLC6A8 | 42 days | LV3409 | +Info |
| Molybdenum cofactor deficiency | NGS of 3 gene panel: GPHN, MOCS1, MOCS2 | 42 days | LV3410 | +Info |
| Immune dysregulation accompained with colitis | NGS of 3 gene panel: IL10,I10RA,IL10RB | 42 days | LV3697 | +Info |
| Leukocyte adhesion deficiency types 1-3 | NGS of 3 gene panel: ITGB2,FUCT1,KINDLIN3 | 42 days | LV3701 | +Info |
| Combined immunodeficiency with anomalous antibody-mediated effector function | NGS of 3 gene panel: MALT1,IL21R,SH2D1A | 42 days | LV3720 | +Info |
| Griscelli syndrome | NGS of 3 gene panel: MLPH, MYO5A, RAB27A | 42 days | LV3504 | +Info |
| Mitochondrial DNA depletion syndrome (neurogastrointestinal encephalopathy, MNGIE type) with or without renal tubulopathy, Mitochondrial recessive ataxia syndrome (includes | NGS of 3 gene panel: POLG, RRM2B, TYMP | 42 days | LV3252 | +Info |
| Complement system congenital defects. C1INH, CR2, CR3 deficiency | NGS of 3 gene panel: SERPING1,CD21,ITGB2 | 42 days | LV3712 | +Info |
| Combined immunodeficiency with thymic defects | NGS of 3 gene panel: TBX1,CHD7,SEMA3E | 42 days | LV3684 | +Info |
| Combined immunodeficiency with defects of vitamin B12 and folate metabolism | NGS of 3 gene panel: TCN2,SLC46A1,MTHFD1 | 42 days | LV3687 | +Info |
| Familial Aggregation Study | NGS of 40 gene panel: APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, GREM1, KIT, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PDGFRA, PMS1, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SCG5, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, VHL . | 42 days | LV3650 | +Info |
| Channelopathies associated with epilepsy | NGS of 41 gene panel: CACNA1A, CACNA2D2, CACNB4, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN2, CLCN4, GABRA1, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GABRG3, HCN1, HCN2, HCN3, HCN4, KCNA2, KCNAB1, KCNB1, KCNC1, KCNH2, KCNH5, KCNJ1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNT2, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCN8A, SCN9A. | 42 days | LV3422 | +Info |
| Nuclear mitochondrial myopathy | NGS of 48 gene panel: AGK, AIFM1, CHKB, COX15, C10orf2, CPT2, DLAT, DNAJC19, FBXL4, FOXRED1, GFER, ISCU, LIAS, MICU1, MPC1, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NUBPL, OPA1, PC, PDHA1, PDHB, PDP1, POLG, POLG2, PUS1, RRM2B, SCO2, SLC25A4, SUCLA2, SUCLG1, TK2, TYMP, YARS2 | 42 days | LV3272 | +Info |
| Epileptic encephalopathy, early infantile | NGS of 49 gene panel: ALDH7A1, ARHGEF9, ARHGEF15, ARX, BRAT1, CACNA2D2, CDKL5, CHD2, CLCN4, CSNK1G1, DNM1, DOCK7, EEF1A2, GABRA1, GNAO1, GRIN2B, HCN1, HNRNPU, KCNA2, KCNB1, KCNH5, KCNQ2, KCNT1, KPNA7, MAPK10, MECP2, NECAP1, NEDD4L, PCDH19, PIGA, PIGQ, PLCB1, PNKP, PNPO, SCN1A, SCN2A, SCN8A, SCN9A, SERPINI1, SLC13A5,SLC2A1, SLC25A22, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SZT2, TBC1D24, WWOX. | 42 days | LV3403 | +Info |
| Mitochondrial DNA depletion syndrome (cardiomyopathic and myopathic types) | NGS of 4 gene panel: AGK, MGME1, SLC25A4, TK2 | 42 days | LV3251 | +Info |
| Mitochondrial complex V deficiency | NGS of 4 gene panel: ATPAF2, ATP5A1, ATP5E, TMEM70 | 42 days | LV3261 | +Info |
| Maple syrup urine disease | NGS of 4 gene panel: BCKDHB, BCKDHA, DBT, PPM1K | 42 days | LV3269 | +Info |
| Mitochondrial DNA depletion syndrome (hepatocerebral and Alpers type). | NGS of 4 gene panel: C10orf2, DGUOK, MPV17, POLG | 42 days | LV3249 | +Info |
| Autosomal dominant autoimmflamatory syndroms | NGS of 4 gene panel: CARD14,SH3BP2,PSMB8,PLCG2 | 42 days | LV3725 | +Info |
| Antibody deficience. Severe reduction in serum IgG and IgA with normal or elevated IgM and normal numbers of B lymphocytes. | NGS of 4 gene panel: CD40LG,CD40,AICDA,UNG | 42 days | LV3690 | +Info |
| Li Fraumeni, Li Fraumeni like, syndromes | NGS of 4 gene panel: CHEK2, TP53, POT1, DICER1, | 42 days | LV3642 | +Info |
| Tremor, hereditary essential, Chorea, hereditary benign, Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Basal ganglia calcification. | NGS of 4 gene panel: FUS, NKX2-1, PDGFB, SLC20A2 | 42 days | LV3114 | +Info |
| Glycogen storage disease | NGS of 4 gene panel: G6PC, GYS1, GYS2, SLC37A4 | 42 days | LV3270 | +Info |
| T- B- syndromic combined immunodeficiency with dysregulation of antibody isotypes | NGS of 4 gene panel: IKAROS,POLE1,SPINK5,SP110 | 42 days | LV3722 | +Info |
| Defects of innate immunity. Chronic mucocutaneous candidiasis. | NGS of 4 gene panel: IL17RA,IL17F,STAT1,TRAF3IP2 | 42 days | LV3709 | +Info |
| Congenital disorder of glycosylation with epilepsy | NGS of 4 gene panel: LG13, PMM2, RFT1, SLC35A2 | 42 days | LV3407 | +Info |
| Autosomal recessive autoimmflamatory syndroms | NGS of 4 gene panel: LPIN2,IL10RN,IL36RN,HOIL1 | 42 days | LV3724 | +Info |
| Autoimmflamatory diseases related to inflamosome disorders | NGS of 4 gene panel: MEFV,MVK,NLRP3,NLRP12 | 42 days | LV3710 | +Info |
| Lymphoproliferative syndromes | NGS of 4 gene panel: SH2D1A,XIAP,ITK,CD27 | 42 days | LV3693 | +Info |
| Hyperalphalipoproteinemia | NGS of 4 gene panel: APOC3, CETP, LIPC, SLCO1B1 | 42 days | LV3392 | +Info |
| Seizures, benign familial neonatal and infantile | NGS of 4 gene panel: KCNQ2, KCNQ3, SCN2A, PRRT2 | 42 days | LV3413 | +Info |
| Ichthyosis, neurological disorder, and skeletal dysplasia and Papillon Lefevre | NGS of 4 gene panel: ABHD5, ALDH3A2, CTSC, ELOVL4. | 42 days | LV3507 | +Info |
| Hereditary hyperekplexia | NGS of 5 gene panel: ARHGEF9, GLRA1, GLRB, GPHN,SLC6A5 | 42 days | LV3426 | +Info |
| Hyperoxaluria, Acatalasemia, Mulibrey syndrome, defective mitochondrial peroxisomal fission. | NGS of 5 gene panel: AGXT, CAT, DNM1L, SOD1, TRIM37, | 42 days | LV3512 | +Info |
| Hamartoma tumor Polyposis syndromes | NGS of 5 gene panel: BMPR1A, SMAD4, PTEN, STK11, DIS3L2. | 42 days | LV3643 | +Info |
| Combined immunodeficiency with decreased or absent T CD8 lymphocytes | NGS of 5 gene panel: CD8A,ZAP70,TAP1,TAP2,TAPBP | 42 days | LV3714 | +Info |
| Chronic Granulomatous Disease | NGS of 5 gene panel: CYBB,CYBA,NCF1,NCF2,NCF4 | 42 days | LV3703 | +Info |
| Glycoproteinosis, fucosidosis, Mannosidosis, Gklycogenosis type 2 | NGS of 5 gene panel: FUCA1, GAA, LAMP2, MAN2B1, MANBA | 42 days | LV3505 | +Info |
| Defects of neutrophil function | NGS of 5 gene panel: LAMTOR2,TAZ,VPS13B,USB1,SLC37A4 | 42 days | LV3700 | +Info |
| Combined immunodeficiency with reduced memory B cell subpopulation | NGS of 5 gene panel: PIK3CD,DOCK8,TNFRSF4,CD27,SH2D1A | 42 days | LV3718 | +Info |
| Combined immunodeficiency with immune-osseous dysplasias | NGS of 5 gene panel: RMRP,SMARCAL1,STAT3,TYK2,DOCK8 | 42 days | LV3685 | +Info |
| Defects of innate immunity. Herpes Simplex virus encephalitis | NGS of 5 gene panel: TLR3,UNC93B1,TRAF3,TRIF,TBK1 | 42 days | LV3708 | +Info |
| T- B+ syndromic combined immunodeficiency | NGS of 5 gene panel: TTC7A,FOXN1,ORAI1,STIM1,STAT5B | 42 days | LV3721 | +Info |
| Hypoalphalipoproteinemia. | NGS of 5 gene panel: ABCA1, APOA1, GBA, LCAT, LPL | 42 days | LV3394 | +Info |
| Anemia, sideroblastic and Protoporphyria, erythropoietic | NGS of 6 gene panel: ABCB7, ALAS2, FECH, FTMT, PUS1, YARS2 | 42 days | LV3273 | +Info |
| Acyl-CoA Dehydrogenase deficiency | NGS of 6 gene panel: ACAD9, ACADVL, ACADM, ACADS, AMACR, HMGCS2 | 42 days | LV3254 | +Info |
| Lysosomal bone disorders: Geleophysic dysplasia, Otospondylomegaepiphyseal dysplasia, Pycnodysostosis, Smith-McCort dysplasia, | NGS of 6 gene panel: ADAMTSL2, COL11A2, COL2A1, CTSK, DYM, RAB33B. | 42 days | LV3501 | +Info |
| Severe congenital neutropenia types 1-5 and X-linked neutropenia | NGS of 6 gene panel: ELANE,GFI1,HAX1,G6PC3,VPS45,WAS | 42 days | LV3699 | +Info |
| Neutropenia, severe congenital | NGS of 6 gene panel: ELANE, G6PC3, GFI1, JAGN1, VPS45, WAS and Sanger sequencing of the HAX1 gene | 42 days | LV3638 | +Info |
| Epilepsy, generalized, with febrile seizures plus and Febrile seizures, familial, | NGS of 6 gene panel: GABRD, GABRG2, HCN2, SCN1A, SCN1B, SCN9A | 42 days | LV3406 | +Info |
| Phagocytes motility defects | NGS of 6 gene panel: RAC2,ACTB,FPR1,CTSC,CEBPE,SBDS | 42 days | LV3702 | +Info |
| T- B- Severe combined immunodeficiency | NGS of 6 gene panel: RAG1,RAG2,DCLRE1C,PRKDC,AK2,ADA | 42 days | LV3680 | +Info |
| Autoimmflamatory diseases non-inlfamosome related. | NGS of 6 gene panel: TNFRSF1,IL10,IL10RA,IL10RB,PSTPIP1,NOD2 | 42 days | LV3711 | +Info |
| Coenzyme Q10 deficiency, primary | NGS of 7 gene panel: ADCK3, COQ2, COQ4, COQ6, COQ9, PDSS1, PDSS2 | 42 days | LV3264 | +Info |
| Endocrine tumors ( Pituitary adenoma, MEN2/ CMT, MEN1, Von Hippel Lindau, Carney complex) | NGS of 7 gene panel: AIP, CDKN1B, RET, MEN1, VHL, PRKAR1A, DICER1 | 42 days | LV3634 | +Info |
| Innate immunity deficiencies associated with predisposition to infections | NGS of 7 gene panel: APOL1,RPSA,HOIL1,STAT2,MCM4,CARD9,CXCR4. | 42 days | LV3723 | +Info |
| Combined immunodeficiency with Dyskeratosis Congenital | NGS of 7 gene panel: DKC1,NOLA2,NOP10,RTEL1,TERC,TERT,TINF2 | 42 days | LV3686 | +Info |
| Familial Hemophagocytic Lymphohistiocytosis with or without hypopigmentation | NGS of 7 gene panel: PRF1,UNC13D,STX11,STXBP2,LYST,RAB27A,AP3B1 | 42 days | LV3692 | +Info |
| Autoimmune lymphoproliferative syndrome | NGS of 7 gene panel: TNFRSF6,TNFSF6,CASP10,CASP8,FADD,CARD11,PRKCD | 42 days | LV3696 | +Info |
| Interferonopathies | NGS of 7 gene panel: TREX1,RNASEH2B,RNASEH2C,RNASEH2A,SAMHD1,ADAR1,ACP5 | 42 days | LV3698 | +Info |
| Hypocholesterolemia and Hypotriglyceridemia | NGS of 7 gene panel: ANGPTL3, APOB, APOC3, MTTP, NPC1L1, PCSK9, SAR1B. | 42 days | LV3393 | +Info |
| Hypobetalipoproteinemia | NGS of 7 gene panel: ANGPTL3, APOB, APOC3, MTTP, NPC1L1, PCSK9, SAR1B. | 42 days | LV3395 | +Info |
| Lactic Acidosis and Pyruvate metabolism disorders | NGS of 86 gene panel:ACAD9, ADCK3, AGK, ALDH2, ATP5E, ATPAF2, BCS1L, BOLA3, COQ2, COQ9, COX10, COX14, COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, FARS2, ETFA, ETFB, ETFDH, ETHE1, FBP1, FH, G6PC, GFM1, GYS2, HLCS, ISCU, LIAS, LRPPRC, MPC1, MPC2, MRPS16, MRPS22, MTO1, NDUFA9, NDUFA11, NDUFAF1, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NFU1, PC , PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, PUS1, RMND1, RRM2B, SCO2, SERAC1, SLC25A3, SLC25A4, SLC37A4, SUCLA2, SUCLG1, SURF1, TAZ, TIMM44, TK2, TMEM70, TPK1, TRMU, TSFM, TUFM, TYMP, UQCRB, YARS2 | 42 days | LV3268 | +Info |
| Antibody deficience. Severe reduction of all serum isotypes with profundly decreased or absent B lymphocytes. | NGS of 8 gene panel: BTK,IGHM,IGLL1,CD79A,CD79B,BLNK,PIK3R1,TCF3 | 42 days | LV3688 | +Info |
| Epilepsy associated to Rett, Angelman syndromes | NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRG3, MECP2, RBFOX1, RBFOX3, UBE3A. | 42 days | LV3416 | +Info |
| Pyruvate dehydrogenase deficiency and Pyruvate carboxylase deficiency | NGS of 8 gene panel: DLAT, LIAS, MPC1, PC, PDHA1, PDHB, PDHX, PDP1 | 42 days | LV3265 | +Info |
| T- B+ Severe combined immunodeficiency | NGS of 8 gene panel: IL2RG,JAK3,L7RA,PTPRC,CD3D,CD3E,CD3Z,CORO1A | 42 days | LV3679 | +Info |
| Combined immunodeficiency with abnormal T cell subpopulations | NGS of 8 gene panel: PNP,CD3G,ITK,RHOH,TRAC,LCK,CARD11,MAGT1 | 42 days | LV3716 | +Info |
| Dyskeratosis congenita | NGS of 9 gene panel: ACD, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2 | 42 days | LV3631 | +Info |
| Combined immunodeficiency with DNA repair defects | NGS of 9 gene panel: ATM,MRE11,NBS1,RECQL3,DNMT3B,ZBTB24,PMS2,RNF168,MCM4 | 42 days | LV3683 | +Info |
| Mitochondrial complex II and III deficiency and Gracile, Bjornstad syndromes. | NGS of 9 gene panel: BCS1L, CYC1, LYRM7, SDHAF1, TTC19, UQCC2, UQCRB, UQCRC2, UQCRQ. | 42 days | LV3259 | +Info |
| Thiamine metabolism dysfunction syndromes and Microcephaly. | NGS of 9 gene panel: COX7B, GFM2, NUP62, RARS2, SLC19A2, SLC19A3, SLC25A12, SLC25A19, TPK1 | 42 days | LV3262 | +Info |
| Mendelian susceptibility to mycobacterial diseases | NGS of 9 gene panel: IL12RB1,IL12B,INFGR1,INFGR2,STAT1,CYBB,IRF8,GATA2,CSF2RA | 42 days | LV3704 | +Info |
| Omenn Syndrome | NGS of 9 gene panel: RAG1,RAG2,DCLRE1C,IL7RA,RMRP,ADA,LIG4,IL2RG,AK2 | 42 days | LV3681 | +Info |
| Cardiomyopathy, Familial | NGS of a 101-gene panel: A2ML1, ABCC9, ACTC1, ACTN2, AGL, ANK2, ANKRD1, BAG3, BRAF, CALR3, CAV3, CBL, CRYAB, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FXN, GAA, GATAD1, GBE1, GLA, GYG1, GYS1, HCN4, HFE, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MIB1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEBL, NEXN, NRAS, OBSCN, PDLIM3, PKP2, PKP4, PLEC, PLN, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RBM20, RIT1, RRAS, RYR2, SCN5A, SDHA, SGCD, SHOC2, SLC25A4, SOS1, SOS2, SYNE1, SYNE2, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, VCL, XK | 56 days | LV3944 | +Info |
| Noonan syndrome 4 | NGS of a 13-gene panel: A2ML1, BRAF, CBL, KRAS, LZTR1, NRAS, PTPN11, RAF1, RIT1, RRAS, SHOC2, SOS1, SOS2 | 42 days | LV3950 | +Info |
| Cardiomyopathy, familial restrictive | NGS of a 13-gene panel: ACTC1, DES, FLNC, GLA, MYBPC3, MYH7, MYL2, MYL3, MYPN, TNNI3, TNNT2, TPM1, TTR | 42 days | LV3947 | +Info |
| Pulmonary Hypertension | NGS of a 13-gene panel: ACVRL1, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, GDF2, KCNK3, NOTCH3, RASA1, RASA2, SMAD4, SMAD9 | 42 days | LV3968 | +Info |
| Septal defects | NGS of a 14-gene panel: ACTC1, CITED2, CRELD1, EVC, FOXC1, G6PC3, GATA4, GATA6, GJA1, GLA, MYH6, NKX2-5, TBX20, TLL1 | 42 days | LV3956 | +Info |
| Heart valve disorders | NGS of a 14-gene panel: CBL, CHST14, ELN, FBLN5, FKBP14, FLNA, HRAS, KRAS, LZTR1, NOTCH1, RIT1, SMAD6, TAB2, TNXB | 42 days | LV3962 | +Info |
| Tetralogy of Fallot and other conotruncal malformations | NGS of a 14-gene panel: EHMT1, GATA4, GATA6, GDF1, HAND2, JAG1, NKX2-5, NKX2-6, NODAL, NOTCH2, RBM10, TBX1, TBX5, ZFPM2 | 42 days | LV3957 | +Info |
| Arterial calcification, generalized | NGS of a 2-gene panel: ABCC6, ENPP1 | 42 days | LV3967 | +Info |
| Veno-occlusive pulmonary disease | NGS of a 2-gene panel: BMPR2, EIF2AK4 | 42 days | LV3965 | +Info |
| Wolff-Parkinson White, syndrome | NGS of a 2-gene panel: GAA, PRKAG2 | 42 days | LV3943 | +Info |
| Moyamoya disease | NGS of a 2-gene panel: GUCY1A3, RNF213 | 42 days | LV3966 | +Info |
| Costello Syndrome | NGS of a 2-gene panel: HRAS, NRAS | 42 days | LV3952 | +Info |
| RASopathies syndromes | NGS of a 20-gene panel: A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1 | 42 days | LV3949 | +Info |
| Left ventricular Non-Compaction | NGS of a 20-gene panel: ACTC1, ACTN2, DMD, DTNA, FHL1, GLA, HCN4, LDB3, LMNA, MIB1, MYBPC3, MYH6, MYH7, MYL2, MYPN, PRDM16, RYR2, TAZ, TNNT2, TPM1 | 42 days | LV3948 | +Info |
| Sudden Death | NGS of a 200-gene panel: ABCC6, ABCC9, ACTA2, ACTC1, ACTN2, ACVRL1, AGL, AKAP9, ALG10, ANK2, ANKRD1, BAG3, BMPR2, BRAF, CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV1, CAV3, CBL, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, CRYAB, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EFEMP2, EIF2AK4, ELN, EMD, ENG, ENPP1, EYA4, FBLN5, FBN1, FBN2, FHL1, FHL2, FHOD3, FKBP14, FKRP, FKTN, FLNA, FLNC, FOXF1, FXN, GAA, GATA4, GATA6, GATAD1, GBE1, GDF2, GJA1, GJA5, GLA, GLMN, GNAI2, GPD1L, GUCY1A3, GYG1, GYS1, HCN4, HFE, HRAS, HTRA1, ILK, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, KRAS, KRIT1, LAMA4, LAMP2, LDB3, LMNA, LOX, LRP6, LZTR1, MAP2K1, MAP2K2, MEF2A, MFAP5, MIB1, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOT, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NKX2-6, NOTCH1, NOTCH3, NPPA, NRAS, NUP155, OBSCN, PDLIM3, PKP2, PKP4, PLN, PLOD1, PRDM16, PRKAG2, PRKG1, PROC, PROS1, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RASA1, RASA2, RBM20, RIT1, RNF213, RRAS, RYR1, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SDHA, SGCD, SHOC2, SLC25A4, SLC2A10, SLMAP, SMAD3, SMAD4, SMAD6, SNTA1, SOS1, SOS2, SPRED1, SYNE1, SYNE2, TAZ, TCAP, TEK, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TNXB, TPM1, TRDN, TRPM4, TTN, TTR, VCL, XK, ZNF469 | 56 days | LV3969 | +Info |
| Brugada and J Wave Syndromes | NGS of a 21-gene panel: ABCC9, CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4, KCND2, KCND3, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, SCN1B, SCN2B, SCN3B, SCN5A, SLMAP, TRPM4 | 42 days | LV3938 | +Info |
| Syndromes associated with aortic aneurysm: Marfan, Beals, Ehlers Danlos, Homocystinuria, Cantu, Loeys Dietz. | NGS of a 21-gene panel: ABCC9, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, EFEMP2, FBLN5, FBN1, FBN2, FKBP14, PLOD1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469 | 42 days | LV3964 | +Info |
| Cardiac conduction diseases | NGS of a 21-gene panel: ACTC1, CACNA1D, DES, EMD, GAA, GJA5, GLA, HCN4, HFE, KCNJ2, KCNK17, LAMP2, LMNA, NKX2-5, PRKAG2, SCN1B, SCN5A, TBX5, TNNI3K, TRPM4, TTR | 42 days | LV3942 | +Info |
| Atrial Fibrillation Familial | NGS of a 29-gene panel: ABCC9, ACTC1, EMD, GATA4, GATA6, GJA1, GJA5, HCN4, KCNA5, KCND3, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ2, KCNQ1, LMNA, NKX2-6, NPPA, NUP155, RANGRF, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, TBX5 | 42 days | LV3937 | +Info |
| Leopard syndrome | NGS of a 3-gene panel: BRAF, PTPN11, RAF1 | 42 days | LV3953 | +Info |
| Vascular disorders of the brain and other organs | NGS of a 36-gene panel: ABCC6, ACVRL1, BMPR2, CAV1, CBS, COL4A1, EFEMP2, EIF2AK4, ENG, ENPP1, GAA, GDF2, GLMN, GUCY1A3, HTRA1, KCNK3, KRIT1, NF1, NOTCH3, NRAS, PROC, PROS1, RAF1, RASA1, RASA2, RNF213, RRAS, SLC2A10, SMAD3, SMAD9, SOS1, TEK, TGFB2, TGFB3, TGFBR1, TGFBR2 | 42 days | LV3961 | +Info |
| Aortic disorders | NGS of a 38-gene panel: ABCC9, ACTA2, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, FKBP14, FLNA, GAA, HRAS, LOX, LZTR1, MFAP5, MYH11, MYLK, NKX2-5, NOTCH1, PLOD1, PRKG1, PTPN11, SLC2A10, SMAD3, SMAD4, SMAD6, SOS2, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469 | 42 days | LV3960 | +Info |
| Hemorrhagic telangiectasia | NGS of a 4-gene panel: ACVRL1, ENG, GDF2, SMAD4 | 42 days | LV3963 | +Info |
| Cardiofaciocutaneous Syndrome | NGS of a 4-gene panel: BRAF, KRAS, MAP2K1, MAP2K2 | 42 days | LV3951 | +Info |
| Loeys-Dietz Syndrome | NGS of a 5-gene panel: SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 | 42 days | LV3970 | +Info |
| Cardiomyopathy, dilated | NGS of a 50-gene panel: ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSG2, DSP, EMD, EYA4, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, GAA, GATAD1, GBE1, ILK, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYPN, NEBL, NEXN, PLN, PRDM16, PSEN1, PSEN2, RAF1, RBM20, SCN5A, SDHA, SGCD, SYNE1, SYNE2, TAZ, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, VCL, XK | 42 days | LV3946 | +Info |
| Familial Cardiomyopathy | NGS of a 50-gene panel: ACTC1, ACTN2, AGL, ANK2, ANKRD1, BRAF, CALR3, CAV3, CSRP3, DES, FHOD3, FLNC, FXN, GLA, GYG1, GYS1, HRAS, JPH2, KRAS, LAMP2, LDB3, MAP2K1, MAP2K2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, NRAS, OBSCN, PDLIM3, PLN, PRKAG2, PTPN11, SCN5A, SHOC2, SLC25A4, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL | 42 days | LV3945 | +Info |
| Congenital Heart Diseases | NGS of a 51-gene panel: A2ML1, ACTC1, ACVR2B, BRAF, CBL, CFC1, CHD7, CITED2, CRELD1, EHMT1, EVC, FOXC1, FOXF1, G6PC3, GATA4, GATA6, GDF1, GJA1, HAND2, HRAS, JAG1, KRAS, LZTR1, MAP2K1, MAP2K2, MMP21, MYH6, NKX2-3, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, NRAS, PTPN11, RAF1, RBM10, RIT1, RPSA, RRAS, SHOC2, SOS1, SOS2, TAB2, TBX1, TBX20, TBX5, TFAP2B, TLL1, ZFPM2, ZIC3 | 42 days | LV3955 | +Info |
| Visceral heterotaxia | NGS of a 7-gene panel: ACVR2B, CFC1, CRELD1, MMP21, NODAL, ZIC3 | 42 days | LV3958 | +Info |
| Aortic and vascular disorders | NGS of a 74-gene panel: A2ML1, ABCC6, ABCC9, ACTA2, ACVRL1, BMPR2, CAV1, CBL, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, EFEMP2, EIF2AK4, ELN, ENG, ENPP1, FBLN5, FBN1, FBN2, FKBP14, FLNA, GAA, GDF2, GLMN, GUCY1A3, HRAS, HTRA1, KCNK3, KRAS, KRIT1, LOX, LRP6, LZTR1, MEF2A, MFAP5, MYH11, MYLK, NF1, NKX2-5, NOTCH1, NOTCH3, NRAS, PLOD1, PRKG1, PROC, PROS1, PTPN11, RAF1, RASA1, RASA2, RIT1, RNF213, RRAS, SLC2A10, SMAD3, SMAD4, SMAD6, SMAD9, SOS1, SOS2, SPRED1, TAB2, TEK, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469 | 42 days | LV3959 | +Info |
| Short QT Syndrome | NGS of a 8-gene panel: CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1 | 42 days | LV3940 | +Info |
| Ventricular Tachycardia, catecholaminergic Polymorphic | NGS of a 8-gene panel: CALM1, CALM2, CALM3, CASQ2, GNAI2, KCNJ2, RYR2, TRDN | 42 days | LV3941 | +Info |
| Familial Arrhythmia. | NGS of a 85-gene panel:ABCC9, ACTC1, AKAP9, ALG10, ANK2, CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CTNNA3, DES, DPP6, DSC2, DSG2, DSP, EMD, GAA, GATA4, GATA6, GJA1, GJA5, GLA, GNAI2, GPD1L, GYG1, HCN4, HFE, HRAS, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, LAMP2, LMNA, MYH6, NKX2-5, NKX2-6, NPPA, NRAS, NUP155, PKP2, PKP4, PLN, PRKAG2, PTPN11, RAF1, RANGRF, RYR1, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLMAP, SNTA1, TBX5, TGFB3, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TRDN, TRPM4, TTN, TTR, XK | 42 days | LV3936 | +Info |
| Long QT syndrome | NGS of a a 19-gene panel: AKAP9, ALG10, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, RYR2, SCN4B, SCN5A, SNTA1, TRDN | 42 days | LV3939 | +Info |
| Retinoblastoma | NGS of the RB1 gene | 28 days | LV3648 | +Info |
| Lysosomal syndromes: Chediak-Higashi, Smith Lemli Opitz, Simpson Golabi, Kabuki, Griscelli, Smith Magenis, Pitt Hopkins. | NGS of 12 gene panel: DHCR7, GPC3, KDM6A, KMT2D, LAMP1, LYST, MLPH, MYO5A, OFD1, RAB27A, RAI1, TCF4, | 42 days | LV3503 | +Info |
| Glycogen storage disease | NGS of 24 gene panel: AGL, ALDOA, ENO3, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, SLC2A2, SLC37A4. | 42 days | LV3397 | +Info |
| Rhizomelic chondrodysplasia punctata | NGS of 4 gene panel: AGPS, GNPAT, PEX5, PEX7. | 42 days | LV3509 | +Info |
| Mucolipidosis, Sialidosis. | NGS of 4 gene panel: GNPTAB, GNPTG, MCOLN1, NEU1 | 42 days | LV3500 | +Info |
| Dyslipidemia associated with storage diseases | NGS of 4 gene panel: NPC1, NPC2, LIPA, GBA | 42 days | LV3396 | +Info |
| Hypertriglyceridemia | NGS of 9 gene panel: APOA5, APOB, APOC2, GCKR, GPD1, GPIHBP1, LMF1, LPL, SLCO1B1 | 42 days | LV3391 | +Info |
| Molecular Oncohematology | NPM1 Mutations | 35 days | LV0631 | +Info |
| Parvovirus.B19 PCR | 14 days | LV2153 | +Info |
| Genetic affiliation | Paternity test | 28 days | LV0046 | +Info |
| Preconception Risk Detection | Preconception screening panel (CFTR -FRAXA) | 49 days | LV0441 | +Info |
| Prenatal Pathology | Prenatal exome trio | 28 days | LV3854 | +Info |
| QF-PCR detection of chromosome13, 18, 21, X and Y anomalies and maternal cell contamination | 5 days | LV3574 | +Info |
| Custom Panel | Report and variant verification more than 49 genes | 42 days | LV2542 | +Info |
| Custom Panel | Report and variant verification more than 99 genes | 49 days | LV2544 | +Info |
| Custom Panel | Report and variant verification up to 22 genes. | 35 days | LV2541 | +Info |
| Custom Panel | Report and variant verification up to 5 genes. | 28 days | LV2540 | +Info |
| Custom Panel | Report and variant verification up to 99 genes | 42 days | LV2543 | +Info |
| Rubella PCR | 14 days | LV2151 | +Info |
| Glomerulosclerosis, focal segmental, 1 | Sanger secuencing of the ACTN4 gene | 56 days | LV3370 | +Info |
| Hypocalciuric hypercalcemia, type I | Sanger secuencing of the CASR gene | 28 days | LV3232 | +Info |
| Hypoaldosteronism, congenital, due to CMO II deficiency | Sanger secuencing of the CYP11B2 gene | 35 days | LV3287 | +Info |
| 17-alpha-hydroxylase deficiency | Sanger secuencing of the CYP17A1 gene | 56 days | LV3398 | +Info |
| Laron Dwarfism | Sanger secuencing of the GHR gene | 35 days | LV3237 | +Info |
| Chorea, hereditary benign | Sanger secuencing of the NKX2-1 gene | 28 days | LV3240 | +Info |
| Pulmonary Fibrosis Idiopathic | Sanger Seq. and detection of large deletionsor duplications in the TERT gene by MLPA | Consult | LV1089 | +Info |
| Alpha-Galactosidase A Deficiency (Fabry disease) | Sanger Seq.of the GLA gene & Detection of large deletions and/or duplications in the GLA gene by MLPA | 42 days | LV1495 | +Info |
| Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency | Sanger sequencing and detection of deletions/duplications by MLPA in the CYP21A2 gene | 42 days | LV4219 | +Info |
| Aniridia | Sanger Sequencing and MLPA of the PAX6 gene | 56 days | LV0570 | +Info |
| Sjogren-Larsson, Syndrome | Sanger Sequencing of ALDH3A2 gene | 46 days | LV2280 | +Info |
| Shwachman-Diamond syndrome | Sanger sequencing of cDNA correspondingto mRNA from the SDBS gene. | 42 days | LV0344 | +Info |
| Dent disease | Sanger Sequencing of CLCN5 gene | 49 days | LV2276 | +Info |
| Achromatopsia-3 | Sanger Sequencing of CNGB3 gene | 49 days | LV2372 | +Info |
| Brooke-Spiegler syndrome | Sanger Sequencing of CYLD gene | 42 days | LV2279 | +Info |
| Congenital amegakaryocytic thrombocytopenia | Sanger sequencing of exon 12 of the MPL gene | 28 days | LV3456 | +Info |
| Myelofibrosis | Sanger sequencing of exon 12 of the MPL gene | 28 days | LV3456 | +Info |
| Thrombocytosis, benign familial microcytic | Sanger sequencing of exon 12 of the MPL gene | 28 days | LV3456 | +Info |
| Hypochondroplasia | Sanger Sequencing of exons 11 and13 of the FGFR3 gene | 28 days | LV0049 | +Info |
| Pfeiffer Syndrome | Sanger Sequencing of FGFR2 gene | 42 days | LV0911 | +Info |
| Holt Oram syndrome | Sanger sequencing of gen TBX5 gene | 35 days | LV0761 | +Info |
| Mucopolysaccharidosis Type IIIA | Sanger sequencing of gene SGSH | 42 days | LV0788 | +Info |
| Growth hormone deficiency, isolated, type IA | Sanger sequencing of GH1 gene | Consult | LV2664 | +Info |
| Growth hormone deficiency, isolated, type IB | Sanger sequencing of GH1 gene | Consult | LV2664 | +Info |
| Growth hormone deficiency, isolated, type II | Sanger sequencing of GH1 gene | Consult | LV2664 | +Info |
| Kowarski syndrome | Sanger sequencing of GH1 gene | Consult | LV2664 | +Info |
| Alpha Thalassemia (Deletion type) | Sanger sequencing of HBA1 and HBA2 genes | 56 days | LV3889 | +Info |
| Heinz body anemias | Sanger sequencing of HBA1 and HBA2 genes | 56 days | LV3889 | +Info |
| X-Linked Severe Combined Immunodeficiency | Sanger sequencing of IL2RG gene | Consult | LV0806 | +Info |
| Pachyonychia congenita, Jackson-Lawler type | Sanger Sequencing of KRT17 gene | 49 days | LV2371 | +Info |
| Monilethrix | Sanger Sequencing of KRT81 and KRT86 genes | 49 days | LV3752 | +Info |
| Charcot-Marie-Tooth disease, type 2A2 | Sanger Sequencing of MFN2 gene | 42 days | LV0495 | +Info |
| Opitz G/BBB Syndrome, X-Linked | Sanger sequencing of MID1 gene | 42 days | LV0694 | +Info |
| Tooth agenesis, selective, 3 | Sanger Sequencing of PAX9 gene | Consult | LV1562 | +Info |
| Diamond-Blackfan anemia 9 | Sanger Sequencing of RPS10 gene | Consult | LV2283 | +Info |
| Diamond-Blackfan anemia 1 | Sanger Sequencing of RPS19 gene | 32 days | LV2281 | +Info |
| Familial Paraganglioma 4 | Sanger sequencing of SDHB gene | 35 days | LV0695 | +Info |
| Campomelic Dysplasia | Sanger sequencing of SOX9 gene | 42 days | LV0773 | +Info |
| Ichthyosis lamellar (Collodion baby) | Sanger sequencing of TGM1 gene | 70 days | LV0701 | +Info |
| Nijmegen breakage syndrome | Sanger Sequencing of the NBN gene | 35 days | LV2622 | +Info |
| 46XY sex reversal 2 | Sanger sequencing of the NR0B1 gene | 35 days | LV3772 | +Info |
| Adrenal hypoplasia, congenital | Sanger sequencing of the NR0B1 gene | 35 days | LV3772 | +Info |
| Rett syndrome | Sanger Sequencing of the NTNG1 gene | 28 days | LV3230 | +Info |
| Interstitial Lung Disease due to ABCA3 Deficiency | Sanger Sequencing of the ABCA3 gene | Consult | LV2425 | +Info |
| Cholestasis, Progressive Familial Intrahepatic Type 2 | Sanger Sequencing of the ABCB11 gene | 70 days | LV1118 | +Info |
| Adrenoleukodystrophy | Sanger Sequencing of the ABCD1 gene | 42 days | LV1342 | +Info |
| Chanarin-Dorfman syndrome | Sanger sequencing of the ABHD5 gene | 35 days | LV4109 | +Info |
| Spondyloenchondrodysplasia with immune dysregulation | Sanger Sequencing of the ACP5 gene | Consult | LV2969 | +Info |
| Congenital Fiber-Type Disproportion | Sanger Sequencing of the ACTA1 gene | Consult | LV1220 | +Info |
| Fibrodysplasia Ossificans Progressiva | Sanger Sequencing of the ACVR1 gene | 42 days | LV0924 | +Info |
| Telangiectasia, hereditary hemorrhagic, type 2 | Sanger Sequencing of the ACVRL1 gene | 42 days | LV0824 | +Info |
| Polyarteritis Nodosa, childhood-onset (PAN) | Sanger sequencing of the ADA2 (CECR1) gene | 42 days | LV3792 | +Info |
| Weill-Marchesani syndrome 1, recessive | Sanger Sequencing of the ADAMTS10 gene | 42 days | LV1708 | +Info |
| Geleophysic dysplasia 1 | Sanger Sequencing of the ADAMTSL2 gene | Consult | LV2896 | +Info |
| Polymicrogiria | Sanger Sequencing of the ADGRG1 gene | 35 days | LV2628 | +Info |
| Adenylosuccinase deficiency | Sanger sequencing of the ADSL gene | 42 days | LV3533 | +Info |
| Hyperoxaluria, primary, type I (HP1) | Sanger sequencing of the AGXT gene | 53 days | LV3674 | +Info |
| Joubert Syndrome | Sanger Sequencing of the AHI1 gene | 126 days | LV1120 | +Info |
| Pituitary adenoma | Sanger sequencing of the AIP gene | 35 days | LV3821 | +Info |
| Autoimmune Polyendocrinopathy Syndrome Type 1 | Sanger Sequencing of the AIRE gene | 46 days | LV1289 | +Info |
| Proteus syndrome, somatic | Sanger Sequencing of the AKT1 gene | 42 days | LV2525 | +Info |
| Anemia, sideroblastic, 1 | Sanger sequencing of the ALAS2 gene | 32 days | LV3541 | +Info |
| Protoporphyria, erythropoietic, X-linked | Sanger sequencing of the ALAS2 gene | 32 days | LV3541 | +Info |
| Fructose Intolerance | Sanger Sequencing of the ALDOB gene | 84 days | LV0943 | +Info |
| Congenital disorder of glycosylation, type Ip | Sanger Sequencing of the ALG11 gene | Consult | LV2966 | +Info |
| Alstrom syndrome | Sanger Sequencing of the ALMS1 gene | 84 days | LV2331 | +Info |
| Ichthyosis lamellar (Collodion baby) | Sanger sequencing of the ALOX12B gene | 35 days | LV1379 | +Info |
| Ichthyosis lamellar (Collodion baby) | Sanger sequencing of the ALOXE3 gene | Consult | LV1380 | +Info |
| Hypophosphatasia | Sanger sequencing of the ALPL gene | 49 days | LV3838 | +Info |
| Myoadenylate deaminase deficiency | Sanger Sequencing of the AMPD1 gene | Consult | LV2895 | +Info |
| Glycine encephalopathy | Sanger Sequencing of the AMT gene | 28 days | LV2323 | +Info |
| Primary Congenital Glaucoma | Sanger sequencing of the ANGPT1 gene | 56 days | LV4327 | +Info |
| Craniometaphyseal dysplasia | Sanger Sequencing of the ANKH gene | 35 days | LV0966 | +Info |
| Hypogonadotropic hypogonadism 1 with or without anosmia | Sanger Sequencing of the ANOS1 gene | 49 days | LV2330 | +Info |
| Adenomatous polyposis, familial | Sanger Sequencing of the APC gene | 42 days | LV0233 | +Info |
| Alzheimer disease, Type 1 | Sanger Sequencing of the APP gene | 42 days | LV0197 | +Info |
| Ataxia-oculomotor apraxia 1 | Sanger sequencing of the APTX gene | Consult | LV1356 | +Info |
| Diabetes insipidus, nephrogenic autosomal recessive | Sanger Sequencing of the AQP2 gene | 28 days | LV3095 | +Info |
| ACTH-independent macronodular adrenal hyperplasia 2 | Sanger sequencing of the ARMC5 gene | 32 days | LV3538 | +Info |
| Metachromatic leukodystrophy | Sanger sequencing of the ARSA gene | 35 days | LV3289 | +Info |
| Mucopolysaccharidosis Type VI | Sanger Sequencing of the ARSB gene | 28 days | LV0974 | +Info |
| Epileptic encephalopathy, early infantile, 1 | Sanger Sequencing of the ARX gene | 28 days | LV0902 | +Info |
| Hydranencephaly with abnormal genitalia | Sanger Sequencing of the ARX gene | 28 days | LV0902 | +Info |
| Lissencephaly, X-Linked | Sanger Sequencing of the ARX gene | 28 days | LV0902 | +Info |
| Mental retardation, X-linked | Sanger Sequencing of the ARX gene | 28 days | LV0902 | +Info |
| Partington Syndrome | Sanger Sequencing of the ARX gene | 28 days | LV0902 | +Info |
| Proud syndrome | Sanger Sequencing of the ARX gene | 28 days | LV0902 | +Info |
| Canavan disease | Sanger Sequencing of the ASPA gene | 35 days | LV4181 | +Info |
| Bohring Opitz syndrome | Sanger Sequencing of the ASXL1 gene | 46 days | LV2916 | +Info |
| Hailey-Hailey disease | Sanger sequencing of the ATP2C1 gene | 56 days | LV3663 | +Info |
| Mental retardation, X-linked, syndromic, Hedera type | Sanger sequencing of the ATP6AP2 gene | 56 days | LV3382 | +Info |
| Wilson disease | Sanger Sequencing of the ATP7B gene | 42 days | LV0262 | +Info |
| Cholestasis, Progressive Familial Intrahepatic Type 1 | Sanger Sequencing of the ATP8B1 gene | 70 days | LV1117 | +Info |
| Infertility associated to Spermatogenic failure 5 | Sanger Sequencing of the AURKC gene | 28 days | LV3161 | +Info |
| Diabetes insipidus, neurohypophyseal | Sanger Sequencing of the AVP gene | 35 days | LV2963 | +Info |
| Diabetes Insipidus, Nephrogenic, X-Linked | Sanger Sequencing of the AVPR2 gene | 35 days | LV0965 | +Info |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1 | Sanger sequencing of the B3GALT6 gene | 42 days | LV4142 | +Info |
| Peters-plus syndrome | Sanger Sequencing of the B3GLCT gene | 42 days | LV2514 | +Info |
| Tumor predisposition syndrome | Sanger Sequencing of the BAP1 gene | Consult | LV2964 | +Info |
| Bardet-Biedl Syndrome | Sanger Sequencing of the BBS1 gene | 42 days | LV0843 | +Info |
| Bardet-Biedl type 10, Syndrome | Sanger Sequencing of the BBS10 gene | 42 days | LV0856 | +Info |
| Butyrylcholinesterase Deficiency | Sanger Sequencing of the BCHE gene | 42 days | LV0962 | +Info |
| Gracile Syndrome | Sanger Sequencing of the BCS1L gene | Consult | LV0906 | +Info |
| Juvenile Polyposis Syndrome | Sanger sequencing of the BMPR1A gene | Consult | LV1326 | +Info |
| Pulmonary hypertension, familial primary, 1 | Sanger Sequencing of the BMPR2 gene | 42 days | LV0157 | +Info |
| Bartter type 4A with neurosensorial hearing loss, Syndrome | Sanger Sequencing of the BSND gene | 28 days | LV0483 | +Info |
| Biotinidase deficiency | Sanger sequencing of the BTD gene | 32 days | LV2672 | +Info |
| X-linked agammaglobulinemia | Sanger sequencing of the BTK gene | 56 days | LV3458 | +Info |
| Hemolytic-Uremic Syndrome | Sanger sequencing of the C3 gene | 42 days | LV3243 | +Info |
| Muscular dystrophy, limb-girdle, type IC | Sanger Sequencing of the CAV3 gene | 35 days | LV2405 | +Info |
| Juvenile myelomonocytic leukemia | Sanger sequencing of the CBL gene | 46 days | LV3565 | +Info |
| Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Sanger sequencing of the CBL gene | 46 days | LV3565 | +Info |
| Homocystinuria, B6-responsive and nonresponsive types | Sanger Sequencing of the CBS gene | 35 days | LV2599 | +Info |
| Thrombosis, hyperhomocysteinemic | Sanger Sequencing of the CBS gene | 35 days | LV2599 | +Info |
| Multiple Cavernomatosis | Sanger Sequencing of the CCM2 gene | 42 days | LV1258 | +Info |
| Hemolytic-Uremic Syndrome | Sanger Sequencing of the CD46 gene | Consult | LV0947 | +Info |
| Parathyroid Carcinoma | Sanger Sequencing of the CDC73 (HRPT2) gene | 49 days | LV1179 | +Info |
| Gastric Cáncer, diffuse | Sanger Sequencing of the CDH1 gene | 56 days | LV0311 | +Info |
| Melanoma, cutaneous malignant, susceptibility to, 3 | Sanger Sequencing of the CDK4 gene | 32 days | LV2315 | +Info |
| Rett syndrome | Sanger Sequencing of the CDKL5 gene | 42 days | LV1195 | +Info |
| Beckwith-Wiedemann syndrome | Sanger Sequencing of the CDKN1C gene | 42 days | LV0457 | +Info |
| Melanoma, familial | Sanger Sequencing of the CDKN2A (p16) gene | 42 days | LV0223 | +Info |
| Neurofibromatosis, type 1 | Sanger sequencing of the cDNA corresponding to the NF1 gene mRNA and confirmation of variants in gDNA | 63 days | LV3972 | +Info |
| Hemolytic-Uremic Syndrome | Sanger Sequencing of the CFB gene | Consult | LV0949 | +Info |
| Hemolytic-Uremic Syndrome | Sanger Sequencing of the CFH gene | 56 days | LV0946 | +Info |
| Hemolytic-Uremic Syndrome | Sanger Sequencing of the CFI gene | Consult | LV0948 | +Info |
| Multiple pterygium syndrome, lethal type and Escobar syndrome | Sanger Sequencing of the CHRNG gene | 35 days | LV2631 | +Info |
| Myotonia Congenita | Sanger sequencing of the CLCN1 gene | 53 days | LV0713 | +Info |
| Osteopetrosis autosomal dominant 2, OPTA2 | Sanger Sequencing of the CLCN7 gene | 42 days | LV0533 | +Info |
| Bartter type 4B, Syndrome | Sanger Sequencing of the CLCNKA and CLCNKB gene | 126 days | LV0828 | +Info |
| Bartter syndrome type 3 | Sanger Sequencing of the CLCNKB gene | 49 days | LV0831 | +Info |
| Hypomagnesemia 3, renal | Sanger Sequencing of the CLDN16 gene | Consult | LV2459 | +Info |
| Hypomagnesemia 5, renal, with ocular involvement | Sanger Sequencing of the CLDN19 gene | Consult | LV3098 | +Info |
| Metaphyseal chondrodysplasia, Schmid type | Sanger sequencing of the COL10A1 gene | 47 days | LV2574 | +Info |
| Corneal dystrophy polymorphous posterior, 2 | Sanger Sequencing of the COL8A2 gene | Consult | LV2583 | +Info |
| Corneal dystrophy, Fuchs endothelial, 1 | Sanger Sequencing of the COL8A2 gene | Consult | LV2583 | +Info |
| Multiple Epiphyseal Dysplasia | Sanger Sequencing of the COMP gene | 28 days | LV0446 | +Info |
| Pseudoachondroplasia | Sanger Sequencing of the COMP gene | 28 days | LV0446 | +Info |
| Mitochondrial complex IV deficiency | Sanger sequencing of the COX14 | 28 days | LV4325 | +Info |
| Coproporphyria, hereditary | Sanger Sequencing of the CPOX gene | Consult | LV1695 | +Info |
| CPT deficiency, hepatic, type II | Sanger sequencing of the CPT2 | 35 days | LV3380 | +Info |
| CPT II deficiency, lethal neonatal | Sanger sequencing of the CPT2 | 35 days | LV3380 | +Info |
| Myopathy due to CPT II deficiency | Sanger sequencing of the CPT2 | 35 days | LV3380 | +Info |
| Mental retardation, autosomal recessive 2 | Sanger Sequencing of the CRBN gene | Consult | LV3104 | +Info |
| Crisponi Syndrome | Sanger Sequencing of the CRLF1 gene | 56 days | LV1298 | +Info |
| Leukoencephalopathy, diffuse hereditary, with spheroids | Sanger sequencing of the CSF1R gene | 42 days | LV3088 | +Info |
| Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | Sanger sequencing of the CSTB gene | 42 days | LV4200 | +Info |
| Methemoglobinemia, type I, II | Sanger sequencing of the CYB5R3 gene | Consult | LV2887 | +Info |
| Aldosteronism, glucocorticoid-remediable | Sanger sequencing of the CYP11B1 gene | 35 days | LV3286 | +Info |
| Primary Congenital Glaucoma | Sanger Sequencing of the CYP1B1 gene | 28 days | LV1100 | +Info |
| Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency | Sanger sequencing of the CYP21A2 gene | 42 days | LV0764 | +Info |
| Warsaw breakage syndrome | Sanger sequencing of the DDX11 gene | 60 days | LV3559 | +Info |
| Smith-Lemli-Opitz Syndrome | Sanger Sequencing of the DHCR7 gene | 35 days | LV0781 | +Info |
| Miller Syndrome | Sanger sequencing of the DHODH gene | 28 days | LV3233 | +Info |
| Pleuropulmonary blastoma family tumor susceptibility syndrome | Sanger sequencing of the DICER1 gene | 70 days | LV3388 | +Info |
| Primary Ciliary Dyskinesia 1 | Sanger sequencing of the DNAI1 gene | 49 days | LV1104 | +Info |
| Ceroid lipofuscinosis, neuronal, 4, Parry type | Sanger Sequencing of the DNAJC5 gene | Consult | LV3064 | +Info |
| Miotubular myopathy, autosomal dominant | Sanger Sequencing of the DNM2 gene | 42 days | LV0829 | +Info |
| Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | Sanger sequencing of the ECHS1 gene | 35 days | LV4076 | +Info |
| Hypohidrotic Ectodermal Dysplasia | Sanger Sequencing of the EDA gene | 35 days | LV0927 | +Info |
| Hypohidrotic Ectodermal Dysplasia | Sanger Sequencing of the EDAR gene | 35 days | LV0944 | +Info |
| Hypohidrotic Ectodermal Dysplasia | Sanger Sequencing of the EDARADD gene | 35 days | LV0945 | +Info |
| Craniofrontonasal dysplasia | Sanger sequencing of the EFNB1 gene | 56 days | LV3816 | +Info |
| Charcot-Marie-Tooth disease, types 1D and 4E | Sanger Sequencing of the EGR2 gene | 28 days | LV0205 | +Info |
| Vanishing White Matter Disease | Sanger Sequencing of the EIF2B1 gene | Consult | LV1200 | +Info |
| Vanishing White Matter Disease | Sanger Sequencing of the EIF2B2 gene | 35 days | LV2603 | +Info |
| Neutropenia, severe congenital , autosomal dominant type 1 | Sanger Sequencing of the ELANE gene | 42 days | LV0337 | +Info |
| Emery-Dreifuss muscular dystrophy 1, X-linked | Sanger Sequencing of the EMD gene | 28 days | LV1341 | +Info |
| Schizencephaly | Sanger Sequencing of the EMX2 gene | Consult | LV0976 | +Info |
| Telangiectasia, hereditary hemorrhagic, type 1 (Rendu Osler Weber) | Sanger sequencing of the ENG gene | 42 days | LV0813 | +Info |
| Vici syndrome | Sanger sequencing of the EPG5 gene | 49 days | LV3527 | +Info |
| Hydrops fetalis, nonimmune, and/or atrial septal defect | Sanger sequencing of the EPHB4 gene | 42 days | LV3890 | +Info |
| Epilepsy, progressive myoclonic 2A (Lafora) | Sanger Sequencing of the EPM2A gene | 49 days | LV2318 | +Info |
| Angiodema, Hereditary, Type III | Sanger sequencing of the exon 9 of FXII gene. | 28 days | LV3449 | +Info |
| Factor XII, Deficiency of | Sanger sequencing of the exon 9 of FXII gene. | 28 days | LV3449 | +Info |
| Exostoses, hereditary multiple | Sanger Sequencing of the EXT1 gene | 42 days | LV0433 | +Info |
| Exostoses, multiple, type 2 | Sanger Sequencing of the EXT2 gene | 42 days | LV1844 | +Info |
| Hemophilia A (Factor VIII) | Sanger Sequencing of the F8 gene (Factor VIII) | 42 days | LV0216 | +Info |
| Hemophilia B | Sanger Sequencing of the F9 gene | 42 days | LV0217 | +Info |
| Tyrosinemia tipo I | Sanger Sequencing of the FAH gene | 56 days | LV0905 | +Info |
| Leukodystrophy, hypomyelinating, 5 | Sanger Sequencing of the FAM126A gene. | Consult | LV2928 | +Info |
| Fanconi Anemia | Sanger Sequencing of the FANCA gene | 42 days | LV1847 | +Info |
| Autoimmune lymphoproliferative syndrome, type IA | Sanger sequencing of the FAS gene | 32 days | LV2888 | +Info |
| Poikiloderma congenital, Weary type | Sanger Sequencing of the FERMT1 gene | 42 days | LV2524 | +Info |
| Aarskog-Scott syndrome | Sanger Sequencing of the FGD1 gene | 42 days | LV2314 | +Info |
| Hypophosphatemic Rickets AD | Sanger sequencing of the FGF23 gene | 28 days | LV0745 | +Info |
| Thanatophoric Dysplasia | Sanger Sequencing of the FGFR3 gene | 42 days | LV0879 | +Info |
| Hereditary leiomyomatosis and renal cell cancer syndrome | Sanger sequencing of the FH gene | 42 days | LV0775 | +Info |
| Birt-Hogg-Dube syndrome | Sanger Sequencing of the FLCN gene | 56 days | LV2566 | +Info |
| Trimethylaminuria | Sanger Sequencing of the FMO3 gene | 35 days | LV2122 | +Info |
| Axenfeld-Rieger Syndrome | Sanger Sequencing of the FOXC1 gene | 35 days | LV1697 | +Info |
| Rett syndrome | Sanger Sequencing of the FOXG1 gene | 35 days | LV1296 | +Info |
| Blepharophimosis, Ptosis and Epicanthus Inversus; BPES | Sanger Sequencing of the FOXL2 | 35 days | LV2168 | +Info |
| Congenital Nystagmus X-linked | Sanger Sequencing of the FRMD7 gene | 126 days | LV0754 | +Info |
| Follicle-stimulating hormone deficiency, isolated | Sanger Sequencing of the FSHB gene | 21 days | LV2274 | +Info |
| Neuroferritinopathy | Sanger sequencing of the FTL gene | 42 days | LV0573 | +Info |
| Hyperferritinemia Cataract Syndrome | Sanger Sequencing of the FTL gene (IRE region) | 28 days | LV1186 | +Info |
| Neural tube defects | Sanger Sequencing of the FUZ gene | 42 days | LV3065 | +Info |
| Friedreich Ataxia | Sanger Sequencing of the FXN gene | 42 days | LV0428 | +Info |
| Glycogen Storage Disease Type Ia | Sanger Sequencing of the G6PC gene | 35 days | LV0941 | +Info |
| Hemolytic anemia due to G6PD deficiency | Sanger Sequencing of the G6PD gene | 53 days | LV2424 | +Info |
| Epilepsy, generalized, with febrile seizures plus, type 3 | Sanger Sequencing of the GABRG2 gene | Consult | LV1587 | +Info |
| Mucopolysaccharidosis Type IVA | Sanger Sequencing of the GALNS gene | 56 days | LV1343 | +Info |
| Galactosemia | Sanger sequencing of the GALT gene | 35 days | LV4118 | +Info |
| Polycystic kidney disease 3 | Sanger sequencing of the GANAB gene | 49 days | LV3820 | +Info |
| Anemia, X-linked, with/without neutropenia and/or platelet abnormalities | Sanger Sequencing of the GATA1 gene | Consult | LV2333 | +Info |
| Thrombocytopenia with beta-thalassemia, X-linked | Sanger Sequencing of the GATA1 gene | Consult | LV2333 | +Info |
| Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | Sanger Sequencing of the GATA1 gene | Consult | LV2333 | +Info |
| Hypoparathyroidism, sensorineural deafness, and renal dysplasia | Sanger Sequencing of the GATA3 gene | 42 days | LV3068 | +Info |
| Atrial septal defect 2 | Sanger sequencing of the GATA4 gene | 28 days | LV3239 | +Info |
| Ventricular septal defect 1 | Sanger sequencing of the GATA4 gene | 28 days | LV3239 | +Info |
| Gaucher disease | Sanger Sequencing of the GBA gene | 46 days | LV2300 | +Info |
| Glycogen storage disease type IV | Sanger Sequencing of the GBE1 gene | Consult | LV0926 | +Info |
| Glutaric Aciduria type 1 | Sanger Sequencing of the GCDH gene | 42 days | LV0487 | +Info |
| Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | Sanger Sequencing of the GCH1 gene | 35 days | LV2290 | +Info |
| Diabetes MODY type 2 | Sanger sequencing of the GCK gene | 42 days | LV0313 | +Info |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis | Sanger Sequencing of the GDAP1 gene | 28 days | LV0202 | +Info |
| Charcot-Marie-Tooth disease, recessive intermediate, A | Sanger Sequencing of the GDAP1 gene | 28 days | LV0202 | +Info |
| Charcot-Marie-Tooth disease, type 4A | Sanger Sequencing of the GDAP1 gene | 28 days | LV0202 | +Info |
| Charcot-Marie-Tooth Neuropathy Type 2K | Sanger Sequencing of the GDAP1 gene | 28 days | LV0202 | +Info |
| Congenital Catarcts | Sanger sequencing of the GEMIN4 gene | 53 days | LV3762 | +Info |
| Diaphragmatic hernia 3 | Sanger Sequencing of the gene ZFPM2 | Consult | LV2440 | +Info |
| Alexander disease | Sanger sequencing of the GFAP gene | 35 days | LV1101 | +Info |
| Hypoplastic left heart syndrome | Sanger Sequencing of the GJA1 gene | 35 days | LV0545 | +Info |
| Charcot-Marie-Tooth disease, X-linked type | Sanger sequencing of the GJB1 (Conexin 32) gene including promoter and UTR regions | 53 days | LV3760 | +Info |
| Deafness, nonsyndromic sensorineural autosomal recessive (DFNB1) | Sanger sequencing of the GJB2 gene | 28 days | LV1540 | +Info |
| Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant | Sanger Sequencing of the GJB3 gene | 28 days | LV0957 | +Info |
| Hidrotic Ectodermal Dysplasia | Sanger Sequencing of the GJB6 gene | 28 days | LV0496 | +Info |
| Alpha-Galactosidase A Deficiency (Fabry disease) | Sanger Sequencing of the GLA gene | 42 days | LV1180 | +Info |
| Glycine encephalopathy | Sanger Sequencing of the GLDC gene | 60 days | LV2289 | +Info |
| Nonaka myopathy | Sanger sequencing of the GNE gene | 56 days | LV3493 | +Info |
| Sialuria | Sanger sequencing of the GNE gene | 56 days | LV3493 | +Info |
| Bernard-Soulier syndrome, type B | Sanger sequencing of the GP1BB | 42 days | LV4016 | +Info |
| Simpson-Golabi-Behmel Syndrome | Sanger sequencing of the GPC3 gene | 53 days | LV3652 | +Info |
| Ocular Albinism type 1 | Sanger sequencing of the GPR143 gene | 56 days | LV0554 | +Info |
| Primary hiperoxaluria type II | Sanger sequencing of the GRHPR gene | 42 days | LV3675 | +Info |
| Epilepsy, focal, with speech disorder and with or without mental retardation | Sanger Sequencing of the GRIN2A gene | 42 days | LV2950 | +Info |
| Frontotemporal dementia with lobar degeneration | Sanger Sequencing of the GRN gene | 42 days | LV0827 | +Info |
| Polyglucosan body myopathy 2 | Sanger sequencing of the GYG1 gene | 84 days | LV3280 | +Info |
| Hyperinsulinemic hypoglycemia, familial, 4 | Sanger sequencing of the HADH gene | 42 days | LV3171 | +Info |
| Juvenile Hemochromatosis type 2B | Sanger Sequencing of the HAMP gene | 42 days | LV1137 | +Info |
| Beta Thalassaemia | Sanger Sequencing of the HBB gene | 28 days | LV0443 | +Info |
| Thalassemia, delta- | Sanger sequencing of the HBD gene | 28 days | LV4106 | +Info |
| Pituitary hormone deficiency, combined, 5 | Sanger Sequencing of the HESX1 gene | 42 days | LV1139 | +Info |
| Septooptic Dysplasia | Sanger Sequencing of the HESX1 gene | 42 days | LV1139 | +Info |
| Hemochromatosis | Sanger Sequencing of the HFE gene | 42 days | LV0214 | +Info |
| Juvenile Hemochromatosis type 2A | Sanger Sequencing of the HFE2 (HJV) gene | 42 days | LV1136 | +Info |
| Neuromyotonia and axonal neuropathy, autosomal recessive | Sanger Sequencing of the HINT1 gene | 42 days | LV3069 | +Info |
| Diabetes MODY type 3 | Sanger Sequencing of the HNF1A gene | 42 days | LV0314 | +Info |
| Diabetes MODY type 5 | Sanger sequencing of the HNF1B gene | 35 days | LV4115 | +Info |
| Diabetes MODY type 1 | Sanger Sequencing of the HNF4A gene | 42 days | LV0312 | +Info |
| Primary hiperoxaluria type III | Sanger sequencing of the HOGA1 gene | 35 days | LV3738 | +Info |
| Microtia with or without hearing impairment and/or cleft palate | Sanger sequencing of the HOXA2 gene | 56 days | LV3431 | +Info |
| Prostate Cancer, familial | Sanger sequencing of the HOXB13 gene | 42 days | LV4222 | +Info |
| Tyrosinemia, type III | Sanger Sequencing of the HPD gene | Consult | LV2962 | +Info |
| Lesch-Nyhan syndrome | Sanger Sequencing of the HPRT1 gene | 49 days | LV2299 | +Info |
| Costello Syndrome | Sanger Sequencing of the HRAS gene | Consult | LV1097 | +Info |
| Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, type 2 | Sanger sequencing of the HTRA1 gene | 53 days | LV3775 | +Info |
| Glioma, susceptibility to, somatic | Sanger sequencing of the IDH1 gene | 32 days | LV3563 | +Info |
| Astrocytoma, Oligoastrocytoma, Oligodendroglioma | Sanger sequencing of the IDH2 gene | 32 days | LV3564 | +Info |
| Mucopolysaccharidosis Type II | Sanger Sequencing of the IDS gene | Consult | LV1152 | +Info |
| Mucopolysaccharidosis I | Sanger Sequencing of the IDUA gene | 35 days | LV3108 | +Info |
| Osteogenesis imperfecta, type V | Sanger Sequencing of the IFITM5 gene | Consult | LV3102 | +Info |
| Growth restriction, severe | Sanger sequencing of the IGF2 gene | 28 days | LV4080 | +Info |
| Acrocapitofemoral dysplasia | Sanger sequencing of the IHH gene | 49 days | LV3474 | +Info |
| Brachydactyly, type A1 | Sanger sequencing of the IHH gene | 49 days | LV3474 | +Info |
| Incontinentia Pigmenti | Sanger sequencing of the IKBKG gene | 56 days | LV1460 | +Info |
| Diabetes, permanent neonatal | Sanger sequencing of the INS gene | 28 days | LV4130 | +Info |
| Popliteal pterygium syndrome 1 | Sanger sequencing of the IRF6 gene | 35 days | LV3355 | +Info |
| Van der Woude syndrome | Sanger sequencing of the IRF6 gene | 35 days | LV3355 | +Info |
| Isovaleric acidemia | Sanger sequencing of the IVD gene | 35 days | LV3822 | +Info |
| Alagille, type 1 syndrome | Sanger Sequencing of the JAG1 gene | 42 days | LV0236 | +Info |
| Diabetes, permanent neonatal | Sanger Sequencing of the KCNJ11 gene | Consult | LV1565 | +Info |
| Andresen-Tawil Syndrome | Sanger sequencing of the KCNJ2 gene | 28 days | LV3241 | +Info |
| Epilepsy, Benign Familial Neonatal, 1 | Sanger Sequencing of the KCNQ2 gene | 49 days | LV2529 | +Info |
| Epilepsy, Benign Familial Neonatal, 2 | Sanger Sequencing of the KCNQ3 gene | Consult | LV0858 | +Info |
| Cornea plana 2 | Sanger sequencing of the KERA gene | 32 days | LV3776 | +Info |
| Spastic paraplegia 10, autosomal dominant | Sanger sequencing of the KIF5A gene | 60 days | LV3199 | +Info |
| Acrocallosal Syndrome | Sanger Sequencing of the KIF7 gene | 49 days | LV2114 | +Info |
| Hypogonadotropic hypogonadism 13 with or without anosmia | Sanger sequencing of the KISS1 gene | 56 days | LV3400 | +Info |
| Hypogonadotropic hypogonadism 8 with or without anosmia | Sanger sequencing of the KISS1R gene | 56 days | LV3401 | +Info |
| Noonan 1 syndrome | Sanger Sequencing of the KRAS gene | Consult | LV0731 | +Info |
| Multiple Cavernomatosis | Sanger sequencing of the KRIT1 gene | 42 days | LV0759 | +Info |
| Epidermolytic palmoplantar hyperkeratosis | Sanger sequencing of the KRT1 | 35 days | LV1417 | +Info |
| Simple Epidermolysis Bullosa | Sanger Sequencing of the KRT14 gene | Consult | LV1150 | +Info |
| Simple Epidermolysis Bullosa | Sanger Sequencing of the KRT5 gene | 42 days | LV0490 | +Info |
| Epidermolytic palmoplantar hyperkeratosis | Sanger sequencing of the KRT9 gene | 35 days | LV1416 | +Info |
| Corpus callosum, partial agenesis of | Sanger Sequencing of the L1CAM gene | 53 days | LV0903 | +Info |
| CRASH syndrome | Sanger Sequencing of the L1CAM gene | 53 days | LV0903 | +Info |
| Hydrocephalus due to aqueductal stenosis | Sanger Sequencing of the L1CAM gene | 53 days | LV0903 | +Info |
| Hydrocephalus with congenital idiopathic intestinal pseudoobstruction | Sanger Sequencing of the L1CAM gene | 53 days | LV0903 | +Info |
| Hydrocephalus with Hirschsprung disease | Sanger Sequencing of the L1CAM gene | 53 days | LV0903 | +Info |
| L1 syndrome | Sanger Sequencing of the L1CAM gene | 53 days | LV0903 | +Info |
| MASA syndrome | Sanger Sequencing of the L1CAM gene | 53 days | LV0903 | +Info |
| Pelger-Hüet anomaly | Sanger Sequencing of the LBR gene | Consult | LV2911 | +Info |
| Hypercholesterolemia, familial | Sanger Sequencing of the LDLR gene | 42 days | LV0219 | +Info |
| Hypercholesterolemia, familial | Sanger Sequencing of the LDLRAP1 gene | Consult | LV2303 | +Info |
| Buschke-Ollendorff syndrome | Sanger sequencing of the LEMD3 gene | 35 days | LV4107 | +Info |
| Morbid Obesity | Sanger Sequencing of the LEP gene | 42 days | LV0474 | +Info |
| Obesity, morbid, due to leptin receptor deficiency | Sanger sequencing of the LEPR gene | 49 days | LV3472 | +Info |
| Epilepsy Lateral Temporal Lobe, Autosomal Dominant | Sanger Sequencing of the LGI1 gene | Consult | LV1282 | +Info |
| Pituitary hormone deficiency, combined, 3 | Sanger sequencing of the LHX3 gene | Consult | LV1420 | +Info |
| Pituitary hormone deficiency, combined, 4 | Sanger sequencing of the LHX4 gene | 53 days | LV1418 | +Info |
| Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome | Sanger Sequencing of the LIFR gene | 49 days | LV1919 | +Info |
| Charcot-Marie-Tooth Neuropathy Type 1C | Sanger Sequencing of the LITAF gene | Consult | LV1147 | +Info |
| Mental retardation, autosomal recessive, 52 | Sanger sequencing of the LMAN2L gene | 42 days | LV3656 | +Info |
| Charcot-Marie-Tooth disease, type 2B1 | Sanger Sequencing of the LMNA gene | 56 days | LV0532 | +Info |
| Nail Patella syndrome | Sanger Sequencing of the LMX1B gene | 63 days | LV0341 | +Info |
| Vohwinkel syndrome with ichthyosis | Sanger sequencing of the LOR gene. | Consult | LV2668 | +Info |
| Exudative vitreoretinopathy 4 | Sanger Sequencing of the LRP5 gene | 42 days | LV1929 | +Info |
| Hyperostosis, endosteal | Sanger Sequencing of the LRP5 gene | 42 days | LV1929 | +Info |
| Osteopetrosis, autosomal dominant 1 | Sanger Sequencing of the LRP5 gene | 42 days | LV1929 | +Info |
| Osteoporosis-pseudoglioma syndrome | Sanger Sequencing of the LRP5 gene | 42 days | LV1929 | +Info |
| Osteosclerosis | Sanger Sequencing of the LRP5 gene | 42 days | LV1929 | +Info |
| van Buchem disease, type 2 | Sanger Sequencing of the LRP5 gene | 42 days | LV1929 | +Info |
| Frontotemporal dementia with parkinsonism | Sanger Sequencing of the MAPT gene | 49 days | LV2580 | +Info |
| 3MC syndrome 1 | Sanger Sequencing of the MASP1 gene | 42 days | LV1940 | +Info |
| Melanoma, cutaneous malignant 5, susceptibility | Sanger sequencing of the MC1R | 56 days | LV4017 | +Info |
| Morbid Obesity | Sanger Sequencing of the MC4R gene | 42 days | LV0481 | +Info |
| Primary Microcephaly, autosomal recessive | Sanger sequencing of the MCPH1 gene | 70 days | LV0566 | +Info |
| Rett syndrome | Sanger Sequencing of the MECP2 gene | 28 days | LV0343 | +Info |
| Mediterranean Fever, familial | Sanger Sequencing of the MEFV gene | 42 days | LV0009 | +Info |
| Multiple Endocrine Neoplasia type I | Sanger sequencing of the MEN1 gene | 35 days | LV0758 | +Info |
| Bardet-Biedl type 6, Syndrome | Sanger Sequencing of the MKKS gene | 35 days | LV0912 | +Info |
| Precocious puberty central 2 | Sanger sequencing of the MKRN3 gene | 56 days | LV3402 | +Info |
| Van der Knaap disease, or Megalencephalic Leukoencephalopathy with Subcortical Cysts | Sanger Sequencing of the MLC1 gene | Consult | LV1201 | +Info |
| Colorectal cancer, hereditary nonpolyposis, type 2 | Sanger Sequencing of the MLH1 gene | 42 days | LV0182 | +Info |
| Muir-Torre syndrome | Sanger Sequencing of the MLH1 gene | 42 days | LV0182 | +Info |
| Methylmalonic aciduria and homocystinuria, cblC type | Sanger Sequencing of the MMACHC gene | Consult | LV2967 | +Info |
| Charcot-Marie-Tooth disease, type 1B | Sanger Sequencing of the MPZ gene | 28 days | LV0203 | +Info |
| Dejerine-Sottas syndrome | Sanger Sequencing of the MPZ gene | 28 days | LV0203 | +Info |
| Colorectal cancer, hereditary nonpolyposis, type 1 | Sanger Sequencing of the MSH2 gene | 42 days | LV0340 | +Info |
| Colorectal cancer, hereditary nonpolyposis, type 5 | Sanger sequencing of the MSH6 gene | 42 days | LV0707 | +Info |
| MELAS syndrome | Sanger Sequencing of the MT-ND5 mitochondrial gene | 35 days | LV0439 | +Info |
| X-Linked Myotubular Myopathy | Sanger Sequencing of the MTM1 gene | Consult | LV1202 | +Info |
| Centronuclear myopathy, autosomal, modifier of | Sanger sequencing of the MTMR14 gene | 56 days | LV3389 | +Info |
| Charcot-Marie-Tooth Disease, Type 4B1 | Sanger sequencing of the MTMR2 gene | 56 days | LV0568 | +Info |
| Medullary cystic kidney disease 1 | Sanger sequencing of the MUC1 gene | 28 days | LV3219 | +Info |
| Methylmalonic Acidemia | Sanger Sequencing of the MUT gene | 35 days | LV0970 | +Info |
| Adenomatous polyposis 2, familial | Sanger sequencing of the MUTYH gene | 42 days | LV0787 | +Info |
| Colorectal adenomatous polyposis, autosomal recessive, with pilomatric | Sanger sequencing of the MUTYH gene | 42 days | LV0787 | +Info |
| Glaucoma 1A, primary open angle | Sanger Sequencing of the MYOC gene | Consult | LV2970 | +Info |
| Acetilation slow | Sanger sequencing of the NAT2 gene | 32 days | LV3561 | +Info |
| Norrie disease | Sanger Sequencing of the NDP gene | 42 days | LV0538 | +Info |
| Diarrhea 4, malabsorptive, congenital | Sanger sequencing of the NEUROG3 gene | 84 days | LV3281 | +Info |
| Epilepsy, progressive myoclonic 2B (Lafora) | Sanger Sequencing of the NHLRC1 gene | 49 days | LV2319 | +Info |
| Nance-Horan syndrome | Sanger Sequencing of the NHS gene | 35 days | LV2469 | +Info |
| Ichthyosis lamellar (Collodion baby) | Sanger sequencing of the NIPAL4 gene | Consult | LV1381 | +Info |
| Cornelia de Lange Syndrome | Sanger Sequencing of the NIPBL gene | 63 days | LV0881 | +Info |
| CINCA syndrome | Sanger Sequencing of the NLRP3 gene | 49 days | LV2313 | +Info |
| Nephrotic syndrome, type 1 | Sanger Sequencing of the NPHS1 gene | 42 days | LV0939 | +Info |
| Nephrotic Syndrome, Steroid-Resistant | Sanger Sequencing of the NPHS2 gene | 35 days | LV1159 | +Info |
| Pseudohypoaldosteronism type I, autosomal dominant | Sanger Sequencing of the NR3C2 gene | 53 days | LV2968 | +Info |
| Sotos Syndrome | Sanger Sequencing of the NSD1 gene | 42 days | LV0841 | +Info |
| Congenital Insensitivity to Pain with Anhidrosis | Sanger Sequencing of the NTRK1 gene | Consult | LV1185 | +Info |
| Albinism, Oculo-cutaneous type II | Sanger Sequencing of the OCA2 gene | 42 days | LV0537 | +Info |
| Lowe syndrome | Sanger Sequencing of the OCRL gene | 42 days | LV0338 | +Info |
| Ornithine transcarbamylase deficiency | Sanger Sequencing of the OTC gene | 42 days | LV2458 | +Info |
| Microphthalmia, syndromic 5 | Sanger Sequencing of the OTX2 gene. | 42 days | LV2516 | +Info |
| Succinyl CoA:3-oxoacid CoA transferase deficiency | Sanger sequencing of the OXCT1 gene | 46 days | LV3621 | +Info |
| Lissencephaly 1 | Sanger Sequencing of the PAFAH1B1 gene | Consult | LV3106 | +Info |
| Subcortical laminar heterotopia | Sanger Sequencing of the PAFAH1B1 gene | Consult | LV3106 | +Info |
| Phenylketonuria | Sanger Sequencing of the PAH gene | 42 days | LV0208 | +Info |
| Neurodegeneration with brain iron accumulation 1 | Sanger Sequencing of the PANK2 gene | 42 days | LV0982 | +Info |
| Parkinson Disease 2 | Sanger Sequencing of the PARK2 gene | 42 days | LV0778 | +Info |
| Parkinson Disease 7 | Sanger sequencing of the PARK7 gene | 53 days | LV0779 | +Info |
| Sanger Sequencing of the PAX2 gene | 46 days | LV1686 | +Info |
| Craniofacial-deafness-hand syndrome | Sanger Sequencing of the PAX3 gene | 42 days | LV3091 | +Info |
| Waardenburg syndrome, type 1 | Sanger Sequencing of the PAX3 gene | 42 days | LV3091 | +Info |
| Waardenburg syndrome, type 3 | Sanger Sequencing of the PAX3 gene | 42 days | LV3091 | +Info |
| Peters Anomaly | Sanger Sequencing of the PAX6 gene | 56 days | LV0572 | +Info |
| Epileptic encephalopathy, early infantile, 9; Juberg-Hellman syndrome | Sanger Sequencing of the PCDH19 gene | 28 days | LV2971 | +Info |
| Cerebral cavernous malformations | Sanger Sequencing of the PDCD10 gene | 42 days | LV2515 | +Info |
| Multiple Cavernomatosis | Sanger Sequencing of the PDCD10 gene | 42 days | LV2515 | +Info |
| Coenzyme Q10 deficiency, primary, 2 | Sanger sequencing of the PDSS1 gene | 35 days | LV4103 | +Info |
| Heimler syndrome 1 | Sanger sequencing of the PEX1 gene | 70 days | LV3383 | +Info |
| Peroxisome biogenesis disorder 1A (Zellweger) | Sanger sequencing of the PEX1 gene | 70 days | LV3383 | +Info |
| Glycogen storage disease X | Sanger Sequencing of the PGAM2 gene | Consult | LV2288 | +Info |
| X-linked hypophosphatemic rickets | Sanger Sequencing of the PHEX gene | 70 days | LV0005 | +Info |
| Borjeson-Forssman-Lehmann syndrome | Sanger Sequencing of the PHF6 gene | 35 days | LV2336 | +Info |
| Central Hypoventilation Syndrome, Congenital | Sanger sequencing of the PHOX2B gene | 42 days | LV3671 | +Info |
| Glycosylphosphatidylinositol biosynthesis defect 11 | Sanger Sequencing of the PIGW gene | 28 days | LV4173 | +Info |
| Cowden syndrome | Sanger sequencing of the PIK3CA gene | 49 days | LV3284 | +Info |
| Parkinson disease 6, early onset | Sanger sequencing of the PINK1 gene | 42 days | LV3540 | +Info |
| Brachydactyly with Joint dysplasia (Liebenberg syndrome) | Sanger Sequencing of the PITX1 gene | Consult | LV2277 | +Info |
| Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | Sanger Sequencing of the PITX1 gene | Consult | LV2277 | +Info |
| Axenfeld-Rieger Syndrome | Sanger Sequencing of the PITX2 gene | 35 days | LV2312 | +Info |
| Polycystic Kidney Disease, Autosomal Dominant | Sanger Sequencing of the PKD2 gene | 49 days | LV1107 | +Info |
| Adenosine triphosphate, elevated, of erythrocytes | Sanger sequencing of the PKLR gene | 56 days | LV3467 | +Info |
| Pyruvate kinase deficiency | Sanger sequencing of the PKLR gene | 56 days | LV3467 | +Info |
| Infantile neuroaxonal dystrophy 1 | Sanger Sequencing of the PLA2G6 gene | 35 days | LV2586 | +Info |
| Karak syndrome | Sanger Sequencing of the PLA2G6 gene | 35 days | LV2586 | +Info |
| Neurodegeneration with brain iron accumulation 1 | Sanger Sequencing of the PLA2G6 gene | 35 days | LV2586 | +Info |
| Parkinson disease 14 | Sanger Sequencing of the PLA2G6 gene | 35 days | LV2586 | +Info |
| Plasminogen Deficiency type 1 | Sanger Sequencing of the PLG gene | Consult | LV0783 | +Info |
| Ehlers-Danlos syndrome, type VI | Sanger Sequencing of the PLOD1 gene | 35 days | LV2587 | +Info |
| Nevo syndrome | Sanger Sequencing of the PLOD1 gene | 35 days | LV2587 | +Info |
| Pelizaeus-Merzbacher disease (PMD) | Sanger Sequencing of the PLP1 gene | 32 days | LV3097 | +Info |
| Spastic paraplegia 2, X-linked | Sanger Sequencing of the PLP1 gene | 32 days | LV3097 | +Info |
| Congenital disorder of glycosylation, type Ia | Sanger Sequencing of the PMM2 gene | Consult | LV1283 | +Info |
| Charcot-Marie-Tooth disease, type 1A | Sanger Sequencing of the PMP22 gene | 28 days | LV0201 | +Info |
| Dejerine-Sottas syndrome | Sanger Sequencing of the PMP22 gene | 28 days | LV0201 | +Info |
| Neuropathy, Hereditary, with liability to Pressure Palsies (HNPP) | Sanger Sequencing of the PMP22 gene | 28 days | LV0201 | +Info |
| Colorectal cancer, hereditary nonpolyposis, type 4 | Sanger Sequencing of the PMS2 gene | 56 days | LV2567 | +Info |
| Muscular dystrophy, limb-girdle, type 2Z | Sanger sequencing of the POGLUT1 gene | 56 days | LV3818 | +Info |
| Colorectal cancer, susceptibility to, 10 | Sanger Sequencing of the POLD1 gene | 46 days | LV2977 | +Info |
| Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | Sanger Sequencing of the POLD1 gene | 46 days | LV2977 | +Info |
| Treacher Collins 2, Syndrome | Sanger Sequencing of the POLR1D gene | 28 days | LV2150 | +Info |
| Obesity, adrenal insufficiency, and red hair due to POMC deficiency | Sanger sequencing of the POMC gene | 49 days | LV3473 | +Info |
| Pituitary hormone deficiency, combined, 1 | Sanger Sequencing of the POU1F1 gene | Consult | LV1174 | +Info |
| Porphyria Variegata | Sanger Sequencing of the PPOX gene | 28 days | LV0333 | +Info |
| Epilepsy, progressive myoclonic, 10 | Sanger sequencing of the PRDM8 gene | 42 days | LV3532 | +Info |
| Familial Cardiomyopathy | Sanger Sequencing of the PRKAG2 gene | 56 days | LV1206 | +Info |
| Acrodysostosis 1 with or without hormone resistance | Sanger sequencing of the PRKAR1A gene | 35 days | LV3290 | +Info |
| Carney complex variant | Sanger sequencing of the PRKAR1A gene | 35 days | LV3290 | +Info |
| Polycystic Liver Disease | Sanger Sequencing of the PRKCSH gene | 56 days | LV0937 | +Info |
| Thrombophilia | Sanger sequencing of the PROCR gene | 56 days | LV3899 | +Info |
| Hyperprolinemia, type I | Sanger Sequencing of the PRODH gene | 35 days | LV3162 | +Info |
| Pituitary hormone deficiency, combined, 2 | Sanger Sequencing of the PROP1 gene | Consult | LV1218 | +Info |
| Retinitis Pigmentosa | Sanger Sequencing of the PRPH2 gene | 28 days | LV0872 | +Info |
| Seizures, benign familial infantile, 3 | Sanger Sequencing of the PRRT2 gene | 35 days | LV2173 | +Info |
| Hereditary pancreatitis | Sanger sequencing of the PRSS1 gene | 33 days | LV3668 | +Info |
| Charcot-Marie-Tooth disease, type 4F | Sanger sequencing of the PRX gene | 28 days | LV0803 | +Info |
| Alzheimer disease, Type 3 | Sanger Sequencing of the PSEN1 gene | 42 days | LV0198 | +Info |
| Frontotemporal Dementia | Sanger Sequencing of the PSEN1 gene | 42 days | LV0198 | +Info |
| Alzheimer disease, Type 4 | Sanger Sequencing of the PSEN2 gene | 42 days | LV0199 | +Info |
| Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | Sanger Sequencing of the PSTPIP1 gene | Consult | LV1694 | +Info |
| Gorlin, syndrome | Sanger Sequencing of the PTCH1 gene | 42 days | LV0336 | +Info |
| Basal cell nevus syndrome | Sanger sequencing of the PTCH2 gene | 42 days | LV3530 | +Info |
| Medulloblastoma, desmoplastic | Sanger sequencing of the PTCH2 gene | 42 days | LV3530 | +Info |
| Lenz-Majewski hyperostotic dwarfism | Sanger sequencing of the PTDSS1 gene | 42 days | LV3740 | +Info |
| Cowden syndrome | Sanger sequencing of the PTEN gene | 42 days | LV0804 | +Info |
| Chondrodysplasia, Blomstrand type | Sanger Sequencing of the PTH1R gene | 42 days | LV2575 | +Info |
| Eiken syndrome | Sanger Sequencing of the PTH1R gene | 42 days | LV2575 | +Info |
| Failure of tooth eruption, primary | Sanger Sequencing of the PTH1R gene | 42 days | LV2575 | +Info |
| Metaphyseal chondrodysplasia, Murk Jansen type | Sanger Sequencing of the PTH1R gene | 42 days | LV2575 | +Info |
| Noonan 1 syndrome | Sanger Sequencing of the PTPN11 gene | 42 days | LV0257 | +Info |
| Glycogen Storage Disease Type V | Sanger Sequencing of the PYGM gene | 46 days | LV0878 | +Info |
| Hereditary Breast and Ovarian Cáncer | Sanger Sequencing of the RAD51C gene | Consult | LV1184 | +Info |
| Ovarian Cáncer | Sanger sequencing of the RAD51D gene | Consult | LV1414 | +Info |
| Noonan 1 syndrome | Sanger sequencing of the RAF1 gene | 56 days | LV0575 | +Info |
| Smiht-Magenis Syndrome | Sanger Sequencing of the RAI1 gene | Consult | LV0936 | +Info |
| Fetal akinesia deformation sequence | Sanger Sequencing of the RAPSN gene | 56 days | LV1554 | +Info |
| Polyglucosan body myopathy 1 with or without immunodeficiency | Sanger sequencing of the RBCK1 gene | 53 days | LV3531 | +Info |
| Thrombocytopenia-absent radius syndrome (TAR syndrome) | Sanger sequencing of the RBM8A gene | 32 days | LV2665 | +Info |
| Multiple Endocrine Neoplasia, type 2 | Sanger Sequencing of the RET gene | 42 days | LV0225 | +Info |
| Retinitis pigmentosa (autosomal dominant) | Sanger Sequencing of the RHO gene | Consult | LV0870 | +Info |
| Noonan Syndrome 8 | Sanger sequencing of the RIT1 gene | 32 days | LV3560 | +Info |
| Cartilage-Hair Hypoplasia | Sanger Sequencing of the RMRP gene | 53 days | LV1114 | +Info |
| Aicardi-Goutieres syndrome 4 | Sanger Sequencing of the RNASEH2A gene | Consult | LV2913 | +Info |
| Aicardi-Goutieres syndrome 2 | Sanger Sequencing of the RNASEH2B gene | 49 days | LV2311 | +Info |
| Aicardi-Goutieres syndrome 3 | Sanger Sequencing of the RNASEH2C gene | 28 days | LV2310 | +Info |
| Brachydactyly, TYPE B1 | Sanger sequencing of the ROR2 gene | 46 days | LV0784 | +Info |
| Retinitis pigmentosa (autosomal dominant) | Sanger Sequencing of the RP1 gene | Consult | LV0873 | +Info |
| Retinitis Pigmentosa | Sanger Sequencing of the RP2 gene | Consult | LV0874 | +Info |
| Retinitis Pigmentosa | Sanger Sequencing of the RPE65 gene | 42 days | LV0871 | +Info |
| Coffin-Lowry syndrome | Sanger Sequencing of the RPS6KA3 gene | 42 days | LV0335 | +Info |
| X-linked Retinoschisis | Sanger Sequencing of the RS1 gene | 42 days | LV0006 | +Info |
| Cleidocranial Dysplasia | Sanger Sequencing of the RUNX2 gene | 42 days | LV0513 | +Info |
| Townes-Brocks Syndrome | Sanger sequencing of the SALL1 gene | 42 days | LV0808 | +Info |
| Coloboma, ocular, autosomal recessive | Sanger sequencing of the SALL2 gene | 32 days | LV3623 | +Info |
| Episodic pain syndrome, familial, 2 | Sanger sequencing of the SCN10A gene | 90 days | LV3211 | +Info |
| Epilepsy, generalized, with febrile seizures plus, type 7 | Sanger Sequencing of the SCN9A gene | 63 days | LV2467 | +Info |
| Insensitivity to pain, channelopathy-associated | Sanger Sequencing of the SCN9A gene | 63 days | LV2467 | +Info |
| Paroxysmal extreme pain disorder | Sanger Sequencing of the SCN9A gene | 63 days | LV2467 | +Info |
| Small fiber neuropathy | Sanger Sequencing of the SCN9A gene | 63 days | LV2467 | +Info |
| Pseudohypoaldosteronism Type 1B, Autosomal Recessive | Sanger sequencing of the SCNN1A gene | 56 days | LV1424 | +Info |
| Liddle syndrome | Sanger Sequencing of the SCNN1B gene | 42 days | LV0469 | +Info |
| Liddle syndrome | Sanger Sequencing of the SCNN1G gene | 42 days | LV0470 | +Info |
| Mitochondrial respiratory chain complex II deficiency | Sanger sequencing of the SDHA gene | 84 days | LV3292 | +Info |
| Paragangliomas 2 | Sanger sequencing of the SDHAF2 gene | 32 days | LV3616 | +Info |
| Gastrointestinal stromal tumor | Sanger sequencing of the SDHC gene | 28 days | LV3236 | +Info |
| Familial Paraganglioma 1 | Sanger Sequencing of the SDHD gene | 35 days | LV0484 | +Info |
| Polycystic Liver Disease | Sanger Sequencing of the SEC63 gene | 126 days | LV0938 | +Info |
| Amyotrophy, hereditary neuralgic | Sanger Sequencing of the SEPT9 gene | 42 days | LV2171 | +Info |
| MEGDEL syndrome (3-methylglutaconic aciduria with deafness - encephalopathy - Leigh-like syndrome) | Sanger sequencing of the SERAC1 gene | 56 days | LV3387 | +Info |
| Alpha1-antitrypsin deficiency | Sanger sequencing of the SERPINA1 gene | 32 days | LV0721 | +Info |
| Antithrombin III deficiency | Sanger sequencing of the SERPINC1 gene | 35 days | LV0726 | +Info |
| Angioedema, Inherited type I and II | Sanger Sequencing of the SERPING1 gene | 42 days | LV0834 | +Info |
| Myelodysplastic syndrome, somatic | Sanger sequencing of the SF3B1 gene | 84 days | LV3288 | +Info |
| Surfactant metabolism dysfunction | Sanger sequencing of the SFTPB gene | 35 days | LV4105 | +Info |
| Interstitial Lung Disease due to surfactant protein C deficiency | Sanger Sequencing of the SFTPC gene | 28 days | LV2427 | +Info |
| Charcot-Marie-Tooth disease, type 4C | Sanger Sequencing of the SH3TC2 gene | 42 days | LV2570 | +Info |
| Mononeuropathy of the median nerve, mild | Sanger Sequencing of the SH3TC2 gene | 42 days | LV2570 | +Info |
| Schizencephaly | Sanger Sequencing of the SHH and SIX3 genes | 35 days | LV1284 | +Info |
| Holoprosencephaly | Sanger Sequencing of the SHH gene | 70 days | LV1208 | +Info |
| Short stature, idiopathic familial | Sanger Sequencing of the SHOX gene | 42 days | LV0741 | +Info |
| Marinesco-Sjogren syndrome | Sanger Sequencing of the SIL1 gene | 35 days | LV2470 | +Info |
| Shprintzen-Goldberg syndrome | Sanger Sequencing of the SKI gene | 35 days | LV2308 | +Info |
| Gitelman Syndrome | Sanger Sequencing of the SLC12A3 gene | 63 days | LV0823 | +Info |
| Erythrocyte lactate transporter defect | Sanger sequencing of the SLC16A1 gene | 53 days | LV3660 | +Info |
| Hyperinsulinemic hypoglycemia, familial, 7 | Sanger sequencing of the SLC16A1 gene | 53 days | LV3660 | +Info |
| Monocarboxylate transporter 1 deficiency | Sanger sequencing of the SLC16A1 gene | 53 days | LV3660 | +Info |
| Carnitine Deficiency, Systemic | Sanger sequencing of the SLC22A5 gene | 63 days | LV3933 | +Info |
| Hypomyelination, global cerebral | Sanger Sequencing of the SLC25A12 gene | 35 days | LV2597 | +Info |
| Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | Sanger Sequencing of the SLC26A4 gene | 42 days | LV1209 | +Info |
| Pendred Syndrome | Sanger Sequencing of the SLC26A4 gene | 42 days | LV1209 | +Info |
| Dystonia 19 | Sanger Sequencing of the SLC2A1 gene. | 42 days | LV2939 | +Info |
| GLUT1 deficiency syndrome 2 or Dystonia 18. | Sanger Sequencing of the SLC2A1 gene. | 42 days | LV2939 | +Info |
| GLUT1 deficiency syndrome type I. | Sanger Sequencing of the SLC2A1 gene. | 42 days | LV2939 | +Info |
| Arterial tortuosity syndrome | Sanger Sequencing of the SLC2A10 gene | Consult | LV3103 | +Info |
| Glycogen Storage Disease Type 1 B | Sanger Sequencing of the SLC37A4 gene | 28 days | LV1160 | +Info |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type; AEZ | Sanger Sequencing of the SLC39A4 gene | 28 days | LV1550 | +Info |
| Hemochromatosis, type 4 | Sanger sequencing of the SLC40A1 gene | 42 days | LV3528 | +Info |
| Renal Glucosuria | Sanger Sequencing of the SLC5A2 gene | Consult | LV0932 | +Info |
| Myoclonic-atonic epilepsy | Sanger sequencing of the SLC6A1 gene | 53 days | LV3654 | +Info |
| Hyperekplexia 3 | Sanger sequencing of the SLC6A5 gene | 84 days | LV3279 | +Info |
| Glycine encephalopathy with normal serum glycine | Sanger sequencing of the SLC6A9 gene | 32 days | LV3751 | +Info |
| Juvenile Polyposis Syndrome | Sanger Sequencing of the SMAD4 gene | Consult | LV2629 | +Info |
| Cornelia de Lange syndrome 2 | Sanger Sequencing of the SMC1A gene | 49 days | LV2404 | +Info |
| Cornelia de Lange type 3 Syndrome | Sanger Sequencing of the SMC3 gene | 42 days | LV1223 | +Info |
| Spinal Muscular Atrophy, proximal (SMA) | Sanger sequencing of the SMN1 gene | 42 days | LV0771 | +Info |
| Spinal muscular atrophy-2 | Sanger sequencing of the SMN1 gene | 42 days | LV0771 | +Info |
| Dementia, Lewy body | Sanger Sequencing of the SNCA gene | Consult | LV3096 | +Info |
| Parkinson disease 1 | Sanger Sequencing of the SNCA gene | Consult | LV3096 | +Info |
| Parkinson disease 4 | Sanger Sequencing of the SNCA gene | Consult | LV3096 | +Info |
| Amyotrophic lateral sclerosis 1 | Sanger Sequencing of the SOD1 gene | 28 days | LV3100 | +Info |
| Microphthalmia, syndromic 3 | Sanger Sequencing of the SOX2 gene | 28 days | LV3175 | +Info |
| Optic nerve hypoplasia and abnormalities of the central nervous system | Sanger Sequencing of the SOX2 gene | 28 days | LV3175 | +Info |
| Panhypopituitarism, X-linked | Sanger Sequencing of the SOX3 gene | 35 days | LV2316 | +Info |
| Diarrhea 3, secretory sodium, congenital, syndromic | Sanger sequencing of the SPINT2 gene | 35 days | LV4138 | +Info |
| Legius syndrome | Sanger Sequencing of the SPRED1 gene | 35 days | LV2471 | +Info |
| Rolandic epilepsy, mental retardation, and speech dyspraxia | Sanger Sequencing of the SRPX2 gene | 42 days | LV2480 | +Info |
| Gonadal Dysgenesis (XY Female) | Sanger Sequencing of the SRY gene | 28 days | LV0268 | +Info |
| Hyper-IgE, syndrome | Sanger sequencing of the STAT3 gene | 42 days | LV2661 | +Info |
| Peutz-Jeghers syndrome | Sanger Sequencing of the STK11 gene | 35 days | LV0150 | +Info |
| Basal cell nevus syndrome | Sanger sequencing of the SUFU gene | 42 days | LV3529 | +Info |
| Medulloblastoma, desmoplastic | Sanger sequencing of the SUFU gene | 42 days | LV3529 | +Info |
| Epileptic encephalopathy, early infantile, 16 | Sanger sequencing of the TBC1D24 gene | 28 days | LV3234 | +Info |
| 22q11.2 Microdeletion (DiGeorge, velocardiofacial syndromes) | Sanger Sequencing of the TBX1 gene | 35 days | LV2912 | +Info |
| Adrenocorticotropic hormone deficiency | Sanger sequencing of the TBX19 gene | 35 days | LV4047 | +Info |
| Cardiomyopathy, hypertrophic, 25 | Sanger sequencing of the TCAP gene | 35 days | LV4048 | +Info |
| Muscular dystrophy, limb-girdle, type 2G | Sanger sequencing of the TCAP gene | 35 days | LV4048 | +Info |
| Pitt-Hopkins syndrome | Sanger Sequencing of the TCF4 gene | 49 days | LV2965 | +Info |
| Osteopetrosis, autosomal recessive 1 | Sanger Sequencing of the TCIRG1 gene | 49 days | LV2914 | +Info |
| Myelodysplastic syndrome, somatic | Sanger sequencing of the TET2 gene | 46 days | LV3566 | +Info |
| Hemochromatosis type 3 | Sanger Sequencing of the TFR2 gene | 56 days | LV1138 | +Info |
| Camurati-Engelmann disease | Sanger Sequencing of the TGFB1 gene | 42 days | LV3099 | +Info |
| Corneal dystrophy, epithelial basement membrane | Sanger sequencing of the TGFBI gene | 49 days | LV3038 | +Info |
| Loeys-Dietz Syndrome, type 1A | Sanger sequencing of the TGFBR1 gene | 42 days | LV0798 | +Info |
| Loeys-Dietz Syndrome | Sanger Sequencing of the TGFBR2 gene | 42 days | LV0283 | +Info |
| Torsion dystonia (DYT6) | Sanger Sequencing of the THAP1 gene | 84 days | LV1088 | +Info |
| Congenital Hypothyroidism, Nongoitrous 1 | Sanger sequencing of the THRA gene | 28 days | LV4310 | +Info |
| Thyroid hormone resistance, autosomal recessive and dominant | Sanger sequencing of the THRB gene | 32 days | LV3608 | +Info |
| Welander distal myopathy | Sanger sequencing of the TIA1 gene | 70 days | LV3381 | +Info |
| TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form | Sanger Sequencing of the TK2 gene | 42 days | LV0780 | +Info |
| COACH syndrome | Sanger sequencing of the TMEM67 gene | 28 days | LV3201 | +Info |
| Joubert syndrome 6 | Sanger sequencing of the TMEM67 gene | 28 days | LV3201 | +Info |
| Meckel syndrome, type 3 | Sanger sequencing of the TMEM67 gene | 28 days | LV3201 | +Info |
| Nephronophthisis 11 | Sanger sequencing of the TMEM67 gene | 28 days | LV3201 | +Info |
| Iron-refractory iron deficiency anemia | Sanger sequencing of the TMPRSS6 gene | 53 days | LV3670 | +Info |
| Familial Autoinflammatory syndrome Behcet-like | Sanger sequencing of the TNFAIP3 gene | 35 days | LV3898 | +Info |
| TRAPS (Familial Hibernian Fever) | Sanger Sequencing of the TNFRSF1A gene | 42 days | LV0910 | +Info |
| Arthrogryposis multiplex congenital, distal, type 2B | Sanger sequencing of the TNNI3 gene | 28 days | LV1347 | +Info |
| Cardiomyopathy, dilated, 1FF | Sanger Sequencing of the TNNI3 gene | 28 days | LV3094 | +Info |
| Cardiomyopathy, dilated, 2A | Sanger Sequencing of the TNNI3 gene | 28 days | LV3094 | +Info |
| Cardiomyopathy, familial restrictive, 1 | Sanger Sequencing of the TNNI3 gene | 28 days | LV3094 | +Info |
| Cardiomyopathy, hypertrophic, 7 | Sanger Sequencing of the TNNI3 gene | 28 days | LV3094 | +Info |
| Li Fraumeni Syndrome | Sanger sequencing of the TP53 gene | 35 days | LV0706 | +Info |
| Ectrodactyly, Ectodermal Dysplasia and Cleft lip/Palate Syndrome | Sanger Sequencing of the TP63 gene (TP73L) | 49 days | LV0317 | +Info |
| Arthrogryposis Multiplex Congenita Distal Type 1 | Sanger Sequencing of the TPM2 gene | Consult | LV1257 | +Info |
| Congenital Fiber-Type Disproportion | Sanger Sequencing of the TPM3 gene | 28 days | LV2614 | +Info |
| Thiopurine S-methyltransferase deficiency | Sanger sequencing of the TPMT gene | 32 days | LV3741 | +Info |
| Neuronal Ceroid Lipofuscinosis | Sanger Sequencing of the TPP1 gene | Consult | LV0923 | +Info |
| Spondyloepiphyseal dysplasia tarda X- linked | Sanger sequencing of the TRAPPC2 | 35 days | LV1415 | +Info |
| Aicardi-Goutieres syndrome 1, dominant and recessive | Sanger Sequencing of the TREX1 gene | 28 days | LV2309 | +Info |
| Glomerulosclerosis, focal segmental, 2 | Sanger sequencing of the TRPC6 gene | 56 days | LV3369 | +Info |
| Trichorhinophalangeal syndrome, type I | Sanger Sequencing of the TRPS1 gene | 84 days | LV1683 | +Info |
| Brachyolmia type 3 | Sanger Sequencing of the TRPV4 gene | 35 days | LV2072 | +Info |
| Digital arthropathy-brachydactyly, familial | Sanger Sequencing of the TRPV4 gene | 35 days | LV2072 | +Info |
| Hereditary motor and sensory neuropathy, type IIc | Sanger Sequencing of the TRPV4 gene | 35 days | LV2072 | +Info |
| Metatropic dysplasia | Sanger Sequencing of the TRPV4 gene | 35 days | LV2072 | +Info |
| Parastremmatic dwarfism | Sanger Sequencing of the TRPV4 gene | 35 days | LV2072 | +Info |
| Scapuloperoneal spinal muscular atrophy | Sanger Sequencing of the TRPV4 gene | 35 days | LV2072 | +Info |
| Spinal muscular atrophy, distal, congenital nonprogressive | Sanger Sequencing of the TRPV4 gene | 35 days | LV2072 | +Info |
| SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE | Sanger Sequencing of the TRPV4 gene | 35 days | LV2072 | +Info |
| Spondylometaphyseal dysplasia, Kozlowski type | Sanger Sequencing of the TRPV4 gene | 35 days | LV2072 | +Info |
| TRPV4 group: Metatropic dysplasia, Spondyloepimetaphyseal dysplasia, Maroteaux type, Spondylometaphyseal dysplasia, Kozlowski type, Brachyolmia, Familial digital arthropathy with brachydactyly | Sanger Sequencing of the TRPV4 gene | 35 days | LV2072 | +Info |
| Congenital Hypothyroidism, Nongoitrous 1 | Sanger sequencing of the TSHR gene | 42 days | LV1350 | +Info |
| Familial Amyloidosis | Sanger Sequencing of the TTR gene | 32 days | LV1471 | +Info |
| Polymicrogiria | Sanger Sequencing of the TUBA8 gene | Consult | LV0901 | +Info |
| Polymicrogiria | Sanger Sequencing of the TUBB2B gene | 42 days | LV0900 | +Info |
| Craniosynostosis | Sanger Sequencing of the TWIST1 gene | 42 days | LV0734 | +Info |
| Saethre-Chotzen syndrome | Sanger Sequencing of the TWIST1 gene | 42 days | LV0734 | +Info |
| Ablepharon-macrostomia syndrome | Sanger sequencing of the TWIST2 gene | 28 days | LV3218 | +Info |
| Albinism, Oculo-cutaneous type 1A | Sanger Sequencing of the TYR gene | 42 days | LV0166 | +Info |
| Albinism, Oculo-cutáneous type 1B | Sanger Sequencing of the TYR gene | 42 days | LV0166 | +Info |
| Angelman syndrome | Sanger Sequencing of the UBE3A gene | 28 days | LV0456 | +Info |
| Crigler-Najjar Syndrome, Type II | Sanger Sequencing of the UGT1A1 gene | 42 days | LV0472 | +Info |
| Crigler-Najjar syndrome | Sanger Sequencing of the UGT1A1 gene | 42 days | LV0472 | +Info |
| Medullary Cystic Kidney Disease 2 | Sanger Sequencing of the UMOD gene | 42 days | LV0476 | +Info |
| Deafness, autosomal recessive 18 | Sanger Sequencing of the USH1C gene | 42 days | LV2090 | +Info |
| Usher syndrome, type 1C | Sanger Sequencing of the USH1C gene | 42 days | LV2090 | +Info |
| Neural tube defects | Sanger Sequencing of the VANGL1 gene | 42 days | LV3066 | +Info |
| Neural tube defects | Sanger Sequencing of the VANGL2 gene | 42 days | LV3067 | +Info |
| Spinal Muscular Atrophy Proximal Adult Autosomal Dominant | Sanger sequencing of the VAPB gene | 42 days | LV0786 | +Info |
| Wagner syndrome | Sanger Sequencing of the VCAN gene | 35 days | LV2644 | +Info |
| Rickets, vitamin D-resistant, type IIA | Sanger sequencing of the VDR gene | 35 days | LV4111 | +Info |
| Von Hipel Lindau syndrome | Sanger sequencing of the VHL gene | 42 days | LV0420 | +Info |
| Cerebellar hypoplasia and mental retardation with or without quadruped | Sanger Sequencing of the VLDLR gene | 35 days | LV2598 | +Info |
| Myopathy, X-linked, with excessive autophagy | Sanger Sequencing of the VMA21 gene | Consult | LV3101 | +Info |
| Neutropenia, severe congenital, X-linked | Sanger sequencing of the WAS gene | 56 days | LV3462 | +Info |
| Thrombocytopenia, X-linked, intermittent | Sanger sequencing of the WAS gene | 56 days | LV3462 | +Info |
| Thrombocytopenia, X-linked | Sanger sequencing of the WAS gene | 56 days | LV3462 | +Info |
| Wiskott-Aldrich syndrome | Sanger sequencing of the WAS gene | 56 days | LV3462 | +Info |
| Wiskott-Aldrich syndrome | Sanger sequencing of the WASF1 gene | 56 days | LV3463 | +Info |
| Wiskott-Aldrich syndrome | Sanger sequencing of the WASF2 gene | 56 days | LV3464 | +Info |
| Wiskott-Aldrich syndrome | Sanger sequencing of the WASL gene | 56 days | LV3465 | +Info |
| Wolfram syndrome | Sanger Sequencing of the WFS1 gene | 42 days | LV2116 | +Info |
| Wiskott-Aldrich syndrome | Sanger sequencing of the WIPF1 gene | 56 days | LV3466 | +Info |
| Gordon Syndrome | Sanger Sequencing of the WNK4 gene | 42 days | LV0825 | +Info |
| Osteogenesis imperfecta, type XV | Sanger sequencing of the WNT1 gene | 84 days | LV3278 | +Info |
| Denys-Drash syndrome | Sanger sequencing of the WT1 gene | 53 days | LV3662 | +Info |
| Frasier syndrome | Sanger sequencing of the WT1 gene | 53 days | LV3662 | +Info |
| Nephrotic syndrome, type 4 | Sanger sequencing of the WT1 gene | 53 days | LV3662 | +Info |
| Wilms tumor, type 1 | Sanger sequencing of the WT1 gene | 53 days | LV3662 | +Info |
| Epileptic encephalopathy, early infantile, 1 | Sanger sequencing of the WWOX gene | 35 days | LV3734 | +Info |
| Spinocerebellar ataxia 12 (SCA12) | Sanger sequencing of the WWOX gene | 35 days | LV3734 | +Info |
| Xeroderma Pigmentosum | Sanger Sequencing of the XPA gene | Consult | LV0989 | +Info |
| Xeroderma Pigmentosum | Sanger Sequencing of the XPC gene | 56 days | LV0988 | +Info |
| Wieacker-Wolff syndrome | Sanger Sequencing of the ZC4H2 gene | Consult | LV3093 | +Info |
| Mowat-Wilson Syndrome | Sanger Sequencing of the ZEB2 gene, and detection of deletions and duplications by MLPA | 42 days | LV1115 | +Info |
| Sorsby fundus dystrophy | Sanger sequencing of TIMP3 gene | 35 days | LV3895 | +Info |
| Simpson-Golabi-Behmel Syndrome | Sanger Sequencing, and detection of deletions and duplications in the GPC3 gene by MLPA | 49 days | LV0782 | +Info |
| Epidermolytic hyperkeratosis | Sanger sequenicng of the KRT10 and KRT1 genes | 42 days | LV1378 | +Info |
| Pheochromocytoma / Paraganglioma | Sanger sequencing of the SDHA, SDHB, SDHC, SDHD genes. | 63 days | LV3833 | +Info |
| Renal Cancer (clear cell renal cancer, papillary renal cancer, Birt-Hogg-Dube syndrome) | Sanger sequencing of the SDHA, SDHB, SDHC, SDHD genes. | 63 days | LV3833 | +Info |
| Confirmation of the effect of Specific Mutation in mRNA | Sequencing of a specific fragment of complementary DNA corresponding to messenger RNA by RT-PCR | 56 days | LV1682 | +Info |
| Diaphanospondylodysostosis | Sequencing of the BMPER gene | 42 days | LV1735 | +Info |
| Neuropathy, Hereditary Sensory and Autonomic, type V | Sequencing of the NGF gene | Consult | LV2252 | +Info |
| Acromesomelic dysplasia, Maroteaux type | Sequencing of the NPR2 gene | 42 days | LV1983 | +Info |
| Thrombophilia | Simultaneous analysis of FII, FV and MTHFR | 28 days | LV0232 | +Info |
| Thrombophilia | Simultaneous analysis of FII, FV, MTHFR and SERPIN | 28 days | LV0578 | +Info |
| Common test of all diseases | Study of prenatal maternal contamination | Consult | LV1140 | +Info |
| Prenatal Diagnosis array | Study of prenatal maternal contamination | Consult | LV1140 | +Info |
| Spinal muscular atrophy | Study of the copy number in SMN1 and detection of the high risk haplotype for silent carriers by MLPA (ethnicity required) | 28 days | LV4137 | +Info |
| Intellectual Disability | Subtelomeric rearrangements detection by MLPA | 28 days | LV0509 | +Info |
| Clinical Exome Sequencing for diagnosis. | Targeted clinical exome (duo) | 56 days | LV3755 | +Info |
| Clinical Exome Sequencing for diagnosis. | Targeted clinical exome (trio) | 56 days | LV3756 | +Info |
| Clinical Exome Sequencing for diagnosis. | Targeted exome up to 200 genes | 56 days | LV3754 | +Info |
| Loeys-Dietz Syndrome | TGFBR1 and TGFBR2 large deletions and duplicationsdetection by MLPA | 35 days | LV3373 | +Info |
| Uniparental Disomy, chromosome 14 | Uniparental Disomy detection of chromosome 14 | 28 days | LV0729 | +Info |
| Prader-Willi syndrome | Uniparental disomy detection of chromosome 15 | 28 days | LV0243 | +Info |
| Russell-Silver, Syndrome | Uniparental disomy detection of chromosome 7 | 28 days | LV0536 | +Info |
| Transient neonatal diabetes | Uniparental Disomy study of chromosome 6 | 28 days | LV3888 | +Info |
| Study of RhD Zygosity | Zygosity determination of RhD | 28 days | LV0763 | +Info |
