| Genomic array (CNV + SNPs), postnatal | Array CytoScan 750K | 35 days | LV3490 | +Info |
| Genomic array (CNV + SNPs), postnatal | Array CytoScan HD | 35 days | LV3489 | +Info |
| Beckwith-Wiedemann syndrome | Beckwith-Wiedemann Síndrome Study by Uniparental Disomy detection of chromosome 11 | 28 days | LV0458 | +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 |
| Common test of all diseases | Chromosome X inactivation analysis | 28 days | LV0222 | +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 |
| Genomic array (CNV + SNPs), postnatal | Clinical Interpretation of arrays | 42 days | LV2409 | +Info |
| Facioescapulohumeral Dystrophy, type I | Complementary studies of the D4Z4 region (gen DUX4) by pulsed-field gel electrophoresis | 70 days | LV3554 | +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 |
| Fragile X Syndrome (FRAXA) | Detection of CGG alleles (normal and expanded) in the FMR1 gene, by PCR and TP-PCR. | 28 days | LV2407 | +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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Familial Hemiplegic Migraine 1 | 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 |
| 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 |
| 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 |
| Pituitary hormone deficiency, combined, 2 | Detection of deletions and/or duplications in PROP1 gene by MLPA. | 28 days | LV2893 | +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 |
| 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 |
| Cystic Fibrosis | Detection of deletions and/or duplications in theCFTR gene by MLPA. | 42 days | LV2663 | +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 |
| Septooptic Dysplasia | Detection of deletions and/or duplicationsin HESX1 gene by MLPA | 28 days | LV3160 | +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 |
| Phelan-McDermid syndrome | Detection of deletions in 22q13.3 by MLPA | 28 days | LV1458 | +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 |
| 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 |
| Glycogen Storage Disease Type II (Pompe Disease) | Detection of deletions/duplications in the GAA gene by MLPA | 28 days | LV4159 | +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 |
| Spinal Muscular Atrophy, proximal (SMA) | Detection of homozygous deletion in the SMN1 gene | 28 days | LV0178 | +Info |
| Capillary and Arteriovenous Malformations | Detection of large delections orduplications in RASA1 gene by MLPA | 28 days | LV3612 | +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 |
| Blepharophimosis, Ptosis and Epicanthus Inversus; BPES | Detection of large deletions and/ or duplicationsin the FOXL2 gene by MLPA | 28 days | LV2169 | +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 |
| Exostoses, hereditary multiple | Detection of large deletions and/or duplications in EXT1 and EXT2 genes by MLPA | 28 days | LV0473 | +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 recessive | Detection of large deletions and/or duplications in PKHD1 gene by MLPA | 42 days | LV1426 | +Info |
| Brugada syndrome | Detection of large deletions and/or duplications in SCN5A gene by MLPA | 28 days | LV1302 | +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 |
| 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 |
| 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 |
| Niemann-Pick disease | Detection of large deletions and/or duplications in the NPC1 gene by MLPA | 28 days | LV3893 | +Info |
| Pelizaeus-Merzbacher disease (PMD) | Detection of large deletions and/or duplications in the PLP1 gene by MLPA | 28 days | LV1095 | +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 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 |
| 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 |
| 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 |
| Campomelic Dysplasia | Detection of large deletions and/or duplicationsin the SOX9 gene by MLPA | 35 days | LV3291 | +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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Telangiectasia ataxia | geneNGS and Sanger sequencing of theATM | 42 days | LV1015 | +Info |
| Common test of all diseases | Genetic counseling consultation | Consult | LV0033 | +Info |
| Alpha1-antitrypsin deficiency | Genotyping of the PI*Z and PI*S alleles of theSERPINA1 gene | 28 days | LV0720 | +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 |
| Clinical Exome Sequencing for diagnosis. | Key Exome reanalysis | Consult | LV4170 | +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 |
| Hyper IgE Syndrome | Large deletions and duplications detection in theDOCK8 and STAT3 genes by MLPA | 35 days | LV3539 | +Info |
| Central Hypoventilation Syndrome, Congenital | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +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 |
| Achondrogenesis, type II or hypochondrogenesis | 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 |
| 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 |
| 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 |
| Juvenile Polyposis Syndrome | MLPA detection of large deletions and duplications in the SMAD4 and BMPR1A genes | 28 days | LV1354 | +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 |
| 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 |
| 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 |
| 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 |
| 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, 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 |
| 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 |
| Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant | 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Jervell-Lange-Nielsen syndrome | Next Generation Sequencing of 2 gene panel: KCNE1, KCNQ1. | 42 days | LV1545 | +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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Neuropathy, congenital hypomyelinating | NGS and bioinformatic CNVs screening, 3-gene panel: CNTNAP1,EGR2,MPZ, | 49 days | LV4265 | +Info |
| Ataxia and oculomotor apraxia | NGS and bioinformatic CNVs screening, 4-gene panel: APTX,PIK3R5,PNKP,SETX, | 49 days | LV4232 | +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 |
| Geleophysic dysplasia 2 | 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 |
| 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 |
| 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 |
| Hypercholesterolemia, familial | 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 |
| 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, 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 |
| 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 |
| 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 |
| Porencephaly 1 | NGS and Sanger Sequencing of the COL4A1 gene | 42 days | LV2408 | +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 |
| 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 |
| Cardiomyopathy, dilated, 1EE | NGS and Sanger Sequencing of the MYH6 gene | 42 days | LV1952 | +Info |
| Trismus-pseudocamptodactyly syndrome | NGS and Sanger Sequencing of the MYH8 gene | 42 days | LV1958 | +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 recessive 37 | NGS and Sanger Sequencing of the MYO6 gene | 42 days | LV1969 | +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 |
| 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 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 |
| 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 |
| Deafness, autosomal recessive 7 | NGS and Sanger Sequencing of the TMC1 gene | 42 days | LV2058 | +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 |
| 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 |
| 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 |
| Tuberous Sclerosis | NGS of 2 gene panel:TSC1, TSC2 | 42 days | LV3172 | +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 |
| 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 |
| 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 |
| Hypercholesterolemia, familial | NGS of a 3-gene panel: APOB, LDLR and PCSK9 | 42 days | LV3931 | +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 |
| Treacher Collins syndrome | NGS of TCOF1 gene | 35 days | LV3204 | +Info |
| Cohen Syndrome | NGS of the VPS13B (COH1) gene | 42 days | LV1552 | +Info |
| Cystic Fibrosis | NGS sequencing of the CFTR gene | 35 days | LV3427 | +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 |
| 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 |
| 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 |
| 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 |
| Hyperekplexia, hereditary | NGS of 3 gene panel: GLRA1, GLRB, SLC6A5 | 42 days | LV3421 | +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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Epilepsy and paroxysmal dyskinesia | NGS of 6 gene panel: GNAO1,KCNMA1, MAGI2,PRRT2, SCN8A, SLC2A1 | 42 days | LV3417 | +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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Cardiofaciocutaneous Syndrome | NGS of a 4-gene panel: BRAF, KRAS, MAP2K1, MAP2K2 | 42 days | LV3951 | +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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Adrenoleukodystrophy | Sanger Sequencing of the ABCD1 gene | 42 days | LV1342 | +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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Ataxia-oculomotor apraxia 1 | Sanger sequencing of the APTX gene | Consult | LV1356 | +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 |
| Mental retardation, X-linked, syndromic, Hedera type | Sanger sequencing of the ATP6AP2 gene | 56 days | LV3382 | +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 |
| 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 |
| Gracile Syndrome | Sanger Sequencing of the BCS1L gene | Consult | LV0906 | +Info |
| Juvenile Polyposis Syndrome | Sanger sequencing of the BMPR1A gene | Consult | LV1326 | +Info |
| Bartter type 4A with neurosensorial hearing loss, Syndrome | Sanger Sequencing of the BSND gene | 28 days | LV0483 | +Info |
| X-linked agammaglobulinemia | Sanger sequencing of the BTK gene | 56 days | LV3458 | +Info |
| Muscular dystrophy, limb-girdle, type IC | Sanger Sequencing of the CAV3 gene | 35 days | LV2405 | +Info |
| Multiple Cavernomatosis | Sanger Sequencing of the CCM2 gene | 42 days | LV1258 | +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 |
| Neurofibromatosis, type 1 | Sanger sequencing of the cDNA corresponding to the NF1 gene mRNA and confirmation of variants in gDNA | 63 days | LV3972 | +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 |
| Metaphyseal chondrodysplasia, Schmid type | Sanger sequencing of the COL10A1 gene | 47 days | LV2574 | +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 |
| 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 |
| Methemoglobinemia, type I, II | Sanger sequencing of the CYB5R3 gene | Consult | LV2887 | +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 |
| 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 |
| Primary Ciliary Dyskinesia 1 | Sanger sequencing of the DNAI1 gene | 49 days | LV1104 | +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 |
| 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 |
| Epilepsy, progressive myoclonic 2A (Lafora) | Sanger Sequencing of the EPM2A gene | 49 days | LV2318 | +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 |
| 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 |
| 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 |
| Hyperferritinemia Cataract Syndrome | Sanger Sequencing of the FTL gene (IRE region) | 28 days | LV1186 | +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 |
| 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 |
| Gaucher disease | Sanger Sequencing of the GBA gene | 46 days | LV2300 | +Info |
| Glutaric Aciduria type 1 | Sanger Sequencing of the GCDH gene | 42 days | LV0487 | +Info |
| Charcot-Marie-Tooth disease, recessive intermediate, A | Sanger Sequencing of the GDAP1 gene | 28 days | LV0202 | +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 |
| 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 |
| 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 |
| Juvenile Hemochromatosis type 2B | Sanger Sequencing of the HAMP gene | 42 days | LV1137 | +Info |
| Septooptic Dysplasia | Sanger Sequencing of the HESX1 gene | 42 days | LV1139 | +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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Acrocallosal Syndrome | Sanger Sequencing of the KIF7 gene | 49 days | LV2114 | +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 |
| 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 |
| 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 |
| Mental retardation, autosomal recessive, 52 | Sanger sequencing of the LMAN2L gene | 42 days | LV3656 | +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 |
| 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 |
| 3MC syndrome 1 | Sanger Sequencing of the MASP1 gene | 42 days | LV1940 | +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 |
| Bardet-Biedl type 6, Syndrome | Sanger Sequencing of the MKKS gene | 35 days | LV0912 | +Info |
| Van der Knaap disease, or Megalencephalic Leukoencephalopathy with Subcortical Cysts | Sanger Sequencing of the MLC1 gene | Consult | LV1201 | +Info |
| Methylmalonic aciduria and homocystinuria, cblC type | Sanger Sequencing of the MMACHC gene | Consult | LV2967 | +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 |
| Methylmalonic Acidemia | Sanger Sequencing of the MUT gene | 35 days | LV0970 | +Info |
| Glaucoma 1A, primary open angle | Sanger Sequencing of the MYOC gene | Consult | LV2970 | +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 |
| 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 |
| 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 |
| 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 |
| Cowden syndrome | Sanger sequencing of the PIK3CA gene | 49 days | LV3284 | +Info |
| Axenfeld-Rieger Syndrome | Sanger Sequencing of the PITX2 gene | 35 days | LV2312 | +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 |
| 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 |
| 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 |
| Pituitary hormone deficiency, combined, 1 | Sanger Sequencing of the POU1F1 gene | Consult | LV1174 | +Info |
| Epilepsy, progressive myoclonic, 10 | Sanger sequencing of the PRDM8 gene | 42 days | LV3532 | +Info |
| Acrodysostosis 1 with or without hormone resistance | Sanger sequencing of the PRKAR1A gene | 35 days | LV3290 | +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 |
| 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 |
| Gorlin, syndrome | Sanger Sequencing of the PTCH1 gene | 42 days | LV0336 | +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 |
| 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 |
| Thrombocytopenia-absent radius syndrome (TAR syndrome) | Sanger sequencing of the RBM8A gene | 32 days | LV2665 | +Info |
| Retinitis pigmentosa (autosomal dominant) | Sanger Sequencing of the RHO gene | Consult | LV0870 | +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 |
| 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 |
| 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 |
| Pseudohypoaldosteronism Type 1B, Autosomal Recessive | Sanger sequencing of the SCNN1A gene | 56 days | LV1424 | +Info |
| Amyotrophy, hereditary neuralgic | Sanger Sequencing of the SEPT9 gene | 42 days | LV2171 | +Info |
| Alpha1-antitrypsin deficiency | Sanger sequencing of the SERPINA1 gene | 32 days | LV0721 | +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 |
| 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 |
| 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 |
| Dystonia 19 | 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 |
| 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 |
| Myoclonic-atonic epilepsy | Sanger sequencing of the SLC6A1 gene | 53 days | LV3654 | +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 |
| Spinal Muscular Atrophy, proximal (SMA) | Sanger sequencing of the SMN1 gene | 42 days | LV0771 | +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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Simpson-Golabi-Behmel Syndrome | Sanger Sequencing, and detection of deletions and duplications in the GPC3 gene by MLPA | 49 days | LV0782 | +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 |
| Common test of all diseases | 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 |
| 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 |
| 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 |
