| 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 |
| Russell-Silver, Syndrome | Chromosome 7 paternal uniparental disomy by MS-MLPA | 35 days | LV3902 | +Info |
| Uniparental Disomy, chromosome 7 | Chromosome 7 paternal uniparental disomy by MS-MLPA | 35 days | LV3902 | +Info |
| Common test of all diseases | Chromosome X inactivation analysis | 28 days | LV0222 | +Info |
| Clinical 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Cornelia de Lange Syndrome | Detection of deletions and/or duplications in NIPBL gene by MLPA. | 28 days | LV2545 | +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 |
| Townes-Brocks Syndrome | Detection of deletions and/or duplications in SALL1 gene by MLPA | 28 days | LV3086 | +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 |
| 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 |
| Norrie disease | Detection of deletions and/or duplicationsin NDP gene by MLPA | 28 days | LV3039 | +Info |
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 | Detection of deletions and/or duplicationsin POMT1 gene by MLPA | 28 days | LV2972 | +Info |
| Pitt-Hopkins syndrome | Detection of deletions and/or duplicationsin TCF4 gene by MLPA | 28 days | LV3082 | +Info |
| Phelan-McDermid syndrome | Detection of deletions in 22q13.3 by MLPA | 28 days | LV1458 | +Info |
| Hyperoxaluria, primary, type I (HP1) | 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 |
| 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 |
| 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 |
| Legius syndrome | Detection of large deletions and/or duplications in SPRED1 gene by MLPA | 28 days | LV1580 | +Info |
| Holt Oram syndrome | Detection of large deletions and/or duplications in TBX5 gene by MLPA | 28 days | LV2328 | +Info |
| Spastic paraplegia 3A | Detection of large deletions and/or duplications in the ATL1 gene by MLPA | 28 days | LV2295 | +Info |
| 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 |
| 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 |
| 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 2 or Dystonia 18. | Detection of large deletions and/or duplications in the SLC2A1 gene by MLPA | 28 days | LV3244 | +Info |
| GLUT1 deficiency syndrome type I. | Detection of large deletions and/or duplications in the SLC2A1 gene by MLPA | 28 days | LV3244 | +Info |
| Spinal muscular atrophy | Detection of large deletions and/or duplications in the SMN1, SMN2 genes by MLPA | 28 days | LV2294 | +Info |
| Spastic paraplegia 3A | Detection of large deletions and/or duplications in the SPAST gene by MLPA | 28 days | LV2296 | +Info |
| 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 |
| Glycine encephalopathy | Detection of large deletions and/or duplicationsin the GLDC gene by MLPA | 28 days | LV3399 | +Info |
| X-Linked Myotubular Myopathy | Detection of large deletions and/or duplicationsin the MTM1 gene by MLPA | 28 days | LV2167 | +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 |
| Spastic paraplegia 11, autosomal recessive | Detection of large deletions and/or duplicationsin the SPG11 gene by MLPA | 28 days | LV3534 | +Info |
| Treacher Collins syndrome | Detection of large deletions and/or duplicationsin the TCOF1 gene by MLPA | 28 days | LV1549 | +Info |
| 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 |
| Common test of all diseases | Detection of specific mutations | 28 days | LV0051 | +Info |
| 22q11.2 Microdeletion (DiGeorge, velocardiofacial syndromes) | Detection of the 22q11.2 deletion by MLPA | 28 days | LV1690 | +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 |
| Creutzfeldt-Jakob disease | Detection of the octapeptide expansion P-H-G-G-G-W-G-Q in the PRNP gene | 35 days | LV3998 | +Info |
| Facioescapulohumeral Dystrophy, type I | Determination of the A/B variants + SSLP haplotype. Minimum 15ml EDTA blood | 70 days | LV4319 | +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 |
| 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 |
| 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 |
| Trichorhinophalangeal syndrome, type I | Large deletion and duplication detection in theEXT1 and TRSP1 genes by MLPA | 35 days | LV3609 | +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 |
| Stickler type I Syndrome (achondrogenesis type I) | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +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 |
| 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 |
| Long QT syndrome | Next Generation Sequencing and Sanger Sequencing of the SCN5A gene | 42 days | LV1581 | +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 |
| 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 |
| Amyotrophic lateral sclerosis 4, juvenile | 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Chediak-Higashi syndrome | NGS + Sanger Sequencing of the LYST gene | 42 days | LV3105 | +Info |
| Dravet syndrome | NGS and bioinformatic CNV screening of the SCN1A gene | 28 days | LV4184 | +Info |
| Epilepsy, generalized, with febrile seizures plus, type 3 | NGS and bioinformatic CNV screening of the SCN1A gene | 28 days | LV4184 | +Info |
| Febrile seizures, familial, 3A | NGS and bioinformatic CNV screening of the SCN1A gene | 28 days | LV4184 | +Info |
| Progressive external ophthalmoplegia, autosomal dominant | NGS and bioinformatic CNVs screening, 10-gene panel: DGUOK, DNA2, POLG, POLG2, RNASEH1, RRM2B, SLC25A4, TK2, TWNK, TYMP | 49 days | LV4277 | +Info |
| Sensory and autonomic neuropathy | NGS and bioinformatic CNVs screening, 10-gene panel: DST,IKBKAP,NGF,PRDM12,RETREG1,SCN11A,SCN9A,SPTLC1,SPTLC2,WNK1, | 49 days | LV4262 | +Info |
| Lipodystrophy | NGS and bioinformatic CNVs screening, 11-gene panel: AGPAT2,BSCL2,CAV1,CIDEC,LIPE,LMNA,LMNB2,PLIN1,PPARG,PSMB8,PTRF, | 49 days | LV4275 | +Info |
| Hereditary chorea | NGS and bioinformatic CNVs screening, 14-gene panel: ADCY5,ARSA,CARS2,COQ9,GLDC,GM2A,GNAO1,HTT,MRE11,NKX2-1,PNKD,SLC20A2,VPS13A,XK, | 49 days | LV4252 | +Info |
| Primary and secondary autonomic neuropathy | NGS and bioinformatic CNVs screening, 14-gene panel: CLTCL1,DST,IKBKAP,MEFV,NGF,NLRP3,NTRK1,PRDM12,RETREG1,SCN11A,SCN9A,SPTLC1,SPTLC2,WNK1, | 49 days | LV4267 | +Info |
| Migraines | NGS and bioinformatic CNVs screening, 15-gene panel: ATP1A2,ATP1A3,CACNA1A,COL4A1,COL4A2,CSNK1D,KCNK18,NOTCH3,PNKD,PRRT2,SCN1A,SLC1A3,SLC2A1,SLC4A4,TREX1, | 49 days | LV4243 | +Info |
| Spinal muscular atrophy | NGS and bioinformatic CNVs screening, 16-gene panel: AR,ASAH1,ASCC1,ATP7A,BICD2,CHCHD10,DNAJB2,DYNC1H1,IGHMBP2,PLEKHG5,SIGMAR1,TRIP4,TRPV4,UBA1,VAPB,VRK1, | 49 days | LV4261 | +Info |
| Other movement disorders: Amyotrophic Lateral Sclerosis, Parkinson, Tremor, Dystonias, Chorea, Dementias and Alzheimer | NGS and bioinformatic CNVs screening, 174-gene panel: AARS2,ABCA7,ABCD1,ACTB,ADAR,ADCY5,ALS2,ANG,ANO3,APOE,APP,APTX,ARSA,ATP13A2,ATP1A3,ATP6AP2,ATP7B,B4GALNT1,C19orf12,C9orf72,CARS2,CHCHD10,CHCHD2,CHMP2B,CIZ1,CLN3,CLN6,COL4A1,COL6A3,COQ9,CP,CSF1R,CST3,CTSF,CYP27A1,DCTN1,DNAJC5,DNAJC6,DNMT1,DPM1,EARS2,ECHS1,EIF4G1,EPM2A,ERBB4,ERCC4,FBXO7,FIG4,FMR1,FTL,FUS,GBA,GCH1,GIGYF2,GLDC,GM2A,GNAL,GNAO1,GNB1,GOSR2,GPT2,GRIK2,GRN,HEXA,HNRNPA1,HNRNPA2B1,HPCA,HTRA1,HTRA2,HTT,ITM2B,KCNA2,KCNC1,KCTD17,KIF1C,KMT2B,LRRK2,LYST,MAPT,MATR3,MCOLN1,MECP2,MECR,MMACHC,MRE11,MTFMT,MYH14,NADK2,NEFH,NEK1,NHLRC1,NKX2-1,NOTCH3,NPC1,NPC2,OPTN,PANK2,PARK7,PDGFB,PDGFRB,PDSS2,PFN1,PINK1,PLA2G6,PMPCA,PNKD,PODXL,POLG,POLR1C,POLR3A,POLR3B,PRKN,PRKRA,PRNP,PRRT2,PSEN1,PSEN2,PTS,RAB39B,RNF216,SCARB2,SCP2,SCYL1,SERAC1,SERPINI1,SETX,SGCE,SIGMAR1,SLC20A2,SLC2A1,SLC6A1,SLC6A3,SLC9A1,SNCA,SNCB,SOD1,SORL1,SPG11,SPR,SQSTM1,STXBP1,SYNJ1,TAF1,TARDBP,TBK1,TENM4,TH,THAP1,TIMM8A,TMEM240,TOR1A,TRAPPC11,TREM2,TREX1,TSFM,TTC19,TTR,TUBA4A,TUBB4A,TWNK,TYROBP,UBQLN2,UCHL1,VAC14,VAPB,VCP,VPS13A,VPS13C,VPS35,WARS2,WDR45,WFS1,XK,XPR1, | 49 days | LV4244 | +Info |
| Mediterranean fever and episodic fever | NGS and bioinformatic CNVs screening, 2-gene panel: MEFV,NLRP3, | 49 days | LV4266 | +Info |
| Family dyskinecia with episodic and facial myochemy | NGS and bioinformatic CNVs screening, 2-gene panel: ADCY5,PRRT2, | 49 days | LV4255 | +Info |
| Essential Tremor | NGS and bioinformatic CNVs screening, 2-gene panel: FUS,TENM4, | 49 days | LV4250 | +Info |
| Neurofibromatosis, type 1 | NGS and bioinformatic CNVs screening, 2-gene panel: NF1, NF2 | 35 days | LV4360 | +Info |
| Neurofibromatosis, type 2 | NGS and bioinformatic CNVs screening, 2-gene panel: NF1, NF2 | 35 days | LV4360 | +Info |
| Friedreich ataxia and differential diagnosis | NGS and bioinformatic CNVs screening, 20-gene panel: ABCB7,APTX,ATCAY,ATM,CTDP1,CYP27A1,FXN,MRE11,MTTP,PCNA,PDHA1,PEX10,PEX16,PEX6,PEX7,PHYH,SETX,SIL1,SYNE1,TTPA, | 49 days | LV4237 | +Info |
| Arthrogryposis and congenital contractures | NGS and bioinformatic CNVs screening, 20-gene panel: ADCY6,ADGRG6,CNTNAP1,COQ7,DNM2,ECEL1,ERBB3,FBN2,GLDN,GLE1,MYBPC1,MYH3,MYH8,NEK9,PIEZO2,PIP5K1C,TNNI2,TNNT3,TPM2,ZBTB42, | 49 days | LV4269 | +Info |
| Neuropathies (includes Charcot Marie Tooth, Neuropathies and Myasthenia) | NGS and bioinformatic CNVs screening, 200-gene panel: AAAS,AARS,ABCD1,ABHD12,ACO2,AGRN,AIFM1,ALG13,ALG14,ALG2,AMPD2,APTX,AR,ARHGEF10,ARL6IP1,ARSA,ASAH1,ASCC1,ATAD3A,ATL1,ATL3,ATP13A2,ATP7A,B4GALNT1,BICD2,BSCL2,C12orf65,C19orf12,CAPN1,CCT5,CHAT,CHCHD10,CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG,CLTCL1,CNTNAP1,COASY,COL13A1,COLQ,COQ4,COX6A1,CPOX,CTDP1,CTSD,CYP27A1,DARS2,DCAF8,DCTN1,DGUOK,DHH,DHTKD1,DNAJB2,DNM2,DNMT1,DOK7,DPAGT1,DST,DSTYK,DYNC1H1,EGR2,EXOSC3,FBLN5,FBXO38,FGD4,FIG4,GALC,GAN,GARS,GBA2,GBE1,GCLC,GDAP1,GFPT1,GJB1,GJC2,GNB4,GSN,HADHB,HARS,HINT1,HK1,HOXD10,HSD17B4,HSPB1,HSPB3,HSPB8,IARS2,IBA57,IGHMBP2,IKBKAP,INF2,KARS,KIF1A,KIF1B,KIF5A,KLC2,LAMB2,LITAF,LMNA,LRP4,LRSAM1,LYST,MARS,MED25,MEFV,MFN2,MME,MORC2,MPV17,MPZ,MTMR2,MUSK,MYH14,NAGLU,NDRG1,NDUFA9,NEFH,NEFL,NGF,NLRP3,NTRK1,OPA1,PDK3,PDSS1,PDSS2,PEX10,PEX16,PEX7,PHYH,PLA2G6,PLD3,PLEKHG5,PMM2,PMP22,PNKP,PNPLA6,POLG,PRDM12,PREPL,PRPS1,PRX,PSAP,PTPN22,PTRH2,PYROXD1,RAB7A,RAPSN,REEP1,RETREG1,RNASEH1,SBF1,SBF2,SCN11A,SCN4A,SCN9A,SCP2,SCYL1,SEPT9,SETX,SH3TC2,SIGMAR1,SLC18A3,SLC25A1,SLC25A46,SLC52A2,SLC52A3,SLC5A7,SNAP25,SOX10,SPG11,SPTLC1,SPTLC2,STUB1,SUCLA2,SURF1,SYT2,TBC1D24,TBCE,TDP1,TFG,TRIM2,TRIP4,TRPV4,TSFM,TTR,TWNK,TXN2,TYMP,UBA1,UBA5,UNC13A,VAPB,VCP,VRK1,WNK1,XK,YARS, | 49 days | LV4257 | +Info |
| Myasthenia | NGS and bioinformatic CNVs screening, 28-gene panel: AGRN,ALG13,ALG14,ALG2,CHAT,CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG,COL13A1,COLQ,DOK7,DPAGT1,GFPT1,LAMB2,LRP4,MUSK,PREPL,PTPN22,RAPSN,SCN4A,SLC18A3,SLC25A1,SLC5A7,SNAP25,SYT2,UNC13A, | 49 days | LV4259 | +Info |
| Joubert Syndrome | NGS and bioinformatic CNVs screening, 28-gene panel: AHI1,ARL13B,B9D1,C5orf42,CC2D2A,CEP104,CEP120,CEP290,CEP41,CSPP1,INPP5E,KIAA0556,KIAA0586,MKS1,NPHP1,PDE6D,PIBF1,RPGRIP1L,SUFU,TCTN1,TCTN2,TCTN3,TMEM138,TMEM216,TMEM231,TMEM237,TMEM67,ZNF423, | 49 days | LV4236 | +Info |
| Myopathies, muscular dystrophies and myotonias | NGS and bioinformatic CNVs screening, 286-gene panel: ABHD5,ACAD9,ACADM,ACADS,ACADVL,ACBD5,ACTA1,ACTG2,ACVR2B,ADCY6,ADGRG6,AGK,AGL,AGPAT2,ALDOA,AMPD1,ANO5,APOPT1,ATP2A1,B3GALNT2,B4GAT1,BAG3,BCS1L,BIN1,BSCL2,BVES,CACNA1S,CAPN3,CASQ1,CAV1,CAV3,CCDC78,CFL2,CHCHD10,CHKB,CIDEC,CLCN1,CNTN1,CNTNAP1,COA5,COL12A1,COL6A1,COL6A2,COL6A3,COL9A3,COQ2,COQ4,COQ7,COQ9,COX10,COX14,COX15,COX20,COX6A2,COX6B1,COX8A,CPT1B,CPT2,CRYAB,CYP2C8,DAG1,DES,DLAT,DMD,DNA2,DNAJB6,DNAJC19,DNM1L,DNM2,DOK7,DOLK,DPM1,DPM2,DPM3,DYSF,EARS2,ECEL1,ECHS1,ELAC2,EMD,ENO3,ERBB3,ETFA,ETFB,ETFDH,EXOSC3,EXOSC8,FAM111B,FARS2,FASTKD2,FBN2,FBXL4,FDX1L,FHL1,FHL2,FKBP14,FKRP,FKTN,FLAD1,FLNC,FOXRED1,GAA,GBE1,GCLC,GFER,GFM1,GLB1,GLDN,GLE1,GMPPB,GNE,GYG1,GYS1,HADHA,HADHB,HIBCH,HINT1,HNRNPA1,HNRNPA2B1,HNRNPDL,HRAS,HSPG2,HTRA2,INPP5K,ISCU,ISPD,ITGA7,ITGA9,KBTBD13,KCNJ2,KLHL40,KLHL41,LAMA2,LAMP2,LARGE1,LDB3,LDHA,LIMS2,LIPE,LMNA,LMNB2,LMOD3,LPIN1,LYRM7,MATR3,MEGF10,MGME1,MICU1,MPV17,MSTN,MTAP,MTHFR,MTM1,MTMR14,MYBPC1,MYF6,MYH14,MYH2,MYH3,MYH7,MYH8,MYOT,MYPN,NALCN,NARS2,NDUFA11,NDUFA12,NDUFA9,NDUFAF1,NDUFAF4,NDUFAF6,NDUFB3,NDUFS4,NDUFV2,NEB,NEK9,NFU1,NUBPL,OPA1,ORAI1,PABPN1,PAX7,PDSS1,PDSS2,PET100,PFKM,PGAM2,PGK1,PGM1,PHKA1,PHKB,PIEZO2,PIP5K1C,PLEC,PLIN1,PMM2,PNPLA2,PNPLA8,POGLUT1,POLG,POLG2,POMGNT1,POMGNT2,POMK,POMT1,POMT2,PPARG,PRKAG2,PSMB8,PTRF,PUS1,PYGM,PYROXD1,RBCK1,RNASEH1,RRM2B,RXYLT1,RYR1,SARS2,SCN4A,SCO1,SCO2,SDHA,SDHAF1,SDHD,SELENON,SERAC1,SGCA,SGCB,SGCD,SGCG,SLC16A1,SLC22A5,SLC25A20,SLC25A26,SLC25A32,SLC25A4,SLC35A2,SLC52A2,SLC52A3,SMCHD1,SMPD1,SPEG,SQSTM1,STAC3,STIM1,SUCLA2,SUCLG1,SYNE1,SYNE2,TACO1,TANGO2,TAZ,TBCD,TBCE,TCAP,TIA1,TK2,TMEM126B,TMEM43,TNNI2,TNNT1,TNNT3,TNPO3,TOR1AIP1,TPM2,TPM3,TRAPPC11,TRIM32,TRIP4,TRMT10C,TRMT5,TSFM,TTC19,TTN,TTR,TWNK,TYMP,VARS2,VCP,VMA21,WARS2,XK,YARS2,ZBTB42,ZC4H2, | 49 days | LV4268 | +Info |
| Periodic paralysis (hypo, normo and hyperkalemic) and thyrotoxic and Andersen Tawil syndrome | NGS and bioinformatic CNVs screening, 3-gene panel: CACNA1S,KCNJ2,SCN4A, | 49 days | LV4270 | +Info |
| Neuropathy, congenital hypomyelinating | NGS and bioinformatic CNVs screening, 3-gene panel: CNTNAP1,EGR2,MPZ, | 49 days | LV4265 | +Info |
| Primary and secondary tremor | NGS and bioinformatic CNVs screening, 34-gene panel: AARS2,ADAR,ANO3,APTX,ATP13A2,ATP7B,CTSF,DPM1,ERCC4,FUS,GOSR2,GPT2,GRIK2,KCNA2,KCNC1,KIF1C,LYST,MMACHC,MTFMT,MYH14,PDSS2,PMPCA,POLR1C,POLR3B,PTS,SCARB2,SCYL1,SLC20A2,SLC6A1,SLC9A1,STXBP1,TENM4,TMEM240,WFS1, | 49 days | LV4249 | +Info |
| Limb-girdle muscular dystrophies | NGS and bioinformatic CNVs screening, 35-gene panel: ANO5,BVES,CAPN3,CAV3,COL6A1,COL6A2,COL6A3,DAG1,DNAJB6,DPM3,DYSF,FKRP,FKTN,GMPPB,HNRNPDL,ISPD,LAMA2,LIMS2,MYOT,PLEC,POGLUT1,POMGNT1,POMGNT2,POMK,POMT1,POMT2,SGCA,SGCB,SGCD,SGCG,TCAP,TNPO3,TRAPPC11,TRIM32,TTN, | 49 days | LV4273 | +Info |
| Ataxia and oculomotor apraxia | NGS and bioinformatic CNVs screening, 4-gene panel: APTX,PIK3R5,PNKP,SETX, | 49 days | LV4232 | +Info |
| Myotonia, congenital paramyotonia, neuromyotonia and Schwartz-Jampel 1, syndrome | NGS and bioinformatic CNVs screening, 4-gene panel: CLCN1,HINT1,HSPG2,SCN4A, | 49 days | LV4271 | +Info |
| Spinocerebellar ataxias | NGS and bioinformatic CNVs screening, 41-gene panel: AFG3L2,ANO10,ATP2B3,CACNA1G,CCDC88C,CWF19L1,EEF2,ELOVL4,ELOVL5,FGF14,GRID2,GRM1,IFRD1,ITPR1,KCNC3,KCND3,MME,PDYN,PLD3,PMPCA,PRKCG,RUBCN,SCYL1,SLC9A1,SLC9A6,SNX14,SPTBN2,STUB1,SYNE1,SYT14,TDP1,TDP2,TGM6,TMEM240,TPP1,TRPC3,TTBK2,UBA5,VWA3B,WWOX,ZNF592, | 49 days | LV4235 | +Info |
| Neuromuscular axis disorders: Charcot Marie Tooth, Neuropathies, Myasthenias, Myotonias, Myopathies and Muscular Dystrophies | NGS and bioinformatic CNVs screening, 452-gene panel: AAAS,AARS,ABCD1,ABHD12,ABHD5,ACAD9,ACADM,ACADS,ACADVL,ACBD5,ACO2,ACTA1,ACTG2,ACVR2B,ADCY6,ADGRG6,AGK,AGL,AGPAT2,AGRN,AIFM1,ALDOA,ALG13,ALG14,ALG2,AMPD1,AMPD2,ANO5,APOPT1,APTX,AR,ARHGEF10,ARL6IP1,ARSA,ASAH1,ASCC1,ATAD3A,ATL1,ATL3,ATP13A2,ATP2A1,ATP7A,B3GALNT2,B4GALNT1,B4GAT1,BAG3,BCS1L,BICD2,BIN1,BSCL2,BVES,C12orf65,C19orf12,CACNA1S,CAPN1,CAPN3,CASQ1,CAV1,CAV3,CCDC78,CCT5,CFL2,CHAT,CHCHD10,CHKB,CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG,CIDEC,CLCN1,CLTCL1,CNTN1,CNTNAP1,COA5,COASY,COL12A1,COL13A1,COL6A1,COL6A2,COL6A3,COL9A3,COLQ,COQ2,COQ4,COQ7,COQ9,COX10,COX14,COX15,COX20,COX6A1,COX6A2,COX6B1,COX8A,CPOX,CPT1B,CPT2,CRYAB,CTDP1,CTSD,CYP27A1,CYP2C8,DAG1,DARS2,DCAF8,DCTN1,DES,DGUOK,DHH,DHTKD1,DLAT,DMD,DNA2,DNAJB2,DNAJB6,DNAJC19,DNM1L,DNM2,DNMT1,DOK7,DOLK,DPAGT1,DPM1,DPM2,DPM3,DST,DSTYK,DYNC1H1,DYSF,EARS2,ECEL1,ECHS1,EGR2,ELAC2,EMD,ENO3,ERBB3,ETFA,ETFB,ETFDH,EXOSC3,EXOSC8,FAM111B,FARS2,FASTKD2,FBLN5,FBN2,FBXL4,FBXO38,FDX1L,FGD4,FHL1,FHL2,FIG4,FKBP14,FKRP,FKTN,FLAD1,FLNC,FOXRED1,GAA,GALC,GAN,GARS,GBA2,GBE1,GCLC,GDAP1,GFER,GFM1,GFPT1,GJB1,GJC2,GLB1,GLDN,GLE1,GMPPB,GNB4,GNE,GSN,GYG1,GYS1,HADHA,HADHB,HARS,HIBCH,HINT1,HK1,HNRNPA1,HNRNPA2B1,HNRNPDL,HOXD10,HRAS,HSD17B4,HSPB1,HSPB3,HSPB8,HSPG2,HTRA2,IARS2,IBA57,IGHMBP2,IKBKAP,INF2,INPP5K,ISCU,ISPD,ITGA7,ITGA9,KARS,KBTBD13,KCNJ2,KIF1A,KIF1B,KIF5A,KLC2,KLHL40,KLHL41,LAMA2,LAMB2,LAMP2,LARGE1,LDB3,LDHA,LIMS2,LIPE,LITAF,LMNA,LMNB2,LMOD3,LPIN1,LRP4,LRSAM1,LYRM7,LYST,MARS,MATR3,MED25,MEFV,MEGF10,MFN2,MGME1,MICU1,MME,MORC2,MPV17,MPZ,MSTN,MTAP,MTHFR,MTM1,MTMR14,MTMR2,MUSK,MYBPC1,MYF6,MYH14,MYH2,MYH3,MYH7,MYH8,MYOT,MYPN,NAGLU,NALCN,NARS2,NDRG1,NDUFA11,NDUFA12,NDUFA9,NDUFAF1,NDUFAF4,NDUFAF6,NDUFB3,NDUFS4,NDUFV2,NEB,NEFH,NEFL,NEK9,NFU1,NGF,NLRP3,NTRK1,NUBPL,OPA1,ORAI1,PABPN1,PAX7,PDK3,PDSS1,PDSS2,PET100,PEX10,PEX16,PEX7,PFKM,PGAM2,PGK1,PGM1,PHKA1,PHKB,PHYH,PIEZO2,PIP5K1C,PLA2G6,PLD3,PLEC,PLEKHG5,PLIN1,PMM2,PMP22,PNKP,PNPLA2,PNPLA6,PNPLA8,POGLUT1,POLG,POLG2,POMGNT1,POMGNT2,POMK,POMT1,POMT2,PPARG,PRDM12,PREPL,PRKAG2,PRPS1,PRX,PSAP,PSMB8,PTPN22,PTRF,PTRH2,PUS1,PYGM,PYROXD1,RAB7A,RAPSN,RBCK1,REEP1,RETREG1,RNASEH1,RRM2B,RXYLT1,RYR1,SARS2,SBF1,SBF2,SCN11A,SCN4A,SCN9A,SCO1,SCO2,SCP2,SCYL1,SDHA,SDHAF1,SDHD,SELENON,SEPT9,SERAC1,SETX,SGCA,SGCB,SGCD,SGCG,SH3TC2,SIGMAR1,SLC16A1,SLC18A3,SLC22A5,SLC25A1,SLC25A20,SLC25A26,SLC25A32,SLC25A4,SLC25A46,SLC35A2,SLC52A2,SLC52A3,SLC5A7,SMCHD1,SMPD1,SNAP25,SOX10,SPEG,SPG11,SPTLC1,SPTLC2,SQSTM1,STAC3,STIM1,STUB1,SUCLA2,SUCLG1,SURF1,SYNE1,SYNE2,SYT2,TACO1,TANGO2,TAZ,TBC1D24,TBCD,TBCE,TCAP,TDP1,TFG,TIA1,TK2,TMEM126B,TMEM43,TNNI2,TNNT1,TNNT3,TNPO3,TOR1AIP1,TPM2,TPM3,TRAPPC11,TRIM2,TRIM32,TRIP4,TRMT10C,TRMT5,TRPV4,TSFM,TTC19,TTN,TTR,TWNK,TXN2,TYMP,UBA1,UBA5,UNC13A,VAPB,VARS2,VCP,VMA21,VRK1,WARS2,WNK1,XK,YARS,YARS2,ZBTB42,ZC4H2, | 56 days | LV4256 | +Info |
| Movement disorders (Ataxias, Paraplegias, Leukodystrophies, Migraines, Amyotrophic Lateral Sclerosis, Parkinson, Tremor, Dystonias, Korea, Dementias, Alzheimer) | NGS and bioinformatic CNVs screening, 455-gene panel: AAAS,AARS2,ABAT,ABCA7,ABCB7,ABCD1,ABHD12,ABHD5,ACO2,ACP5,ACTB,ADAR,ADCK3,ADCY5,AFG3L2,AHDC1,AHI1,AIMP1,ALDH18A1,ALG6,ALS2,AMPD2,ANG,ANO10,ANO3,AP4B1,AP4E1,AP4M1,AP4S1,AP5Z1,APOE,APP,APTX,ARL13B,ARL6IP1,ARSA,ARSI,ASNS,ASS1,ATAD3A,ATCAY,ATL1,ATM,ATP13A2,ATP1A2,ATP1A3,ATP2B3,ATP2B4,ATP6AP2,ATP7A,ATP7B,ATP8A2,B4GALNT1,B9D1,BRAT1,BSCL2,C12orf65,C19orf12,C5orf42,C9orf72,CA8,CACNA1A,CACNA1C,CACNA1G,CACNB4,CAMTA1,CAPN1,CARS2,CASK,CC2D2A,CCDC88C,CCT5,CEP104,CEP120,CEP290,CEP41,CHCHD10,CHCHD2,CHMP2B,CIZ1,CLCN2,CLN3,CLN5,CLN6,CLN8,CLPP,CNTNAP2,COASY,COG5,COL4A1,COL4A2,COL6A3,COQ2,COQ9,COX10,COX14,COX15,COX20,COX6B1,COX8A,CP,CPT1C,CSF1R,CSNK1D,CSPP1,CST3,CTBP1,CTDP1,CTNNB1,CTSD,CTSF,CWF19L1,CYP27A1,CYP2U1,CYP7B1,DARS,DARS2,DCTN1,DDHD1,DDHD2,DNA2,DNAJC19,DNAJC3,DNAJC5,DNAJC6,DNMT1,DPM1,DSTYK,EARS2,EBF3,ECHS1,EEF2,EIF2B1,EIF2B2,EIF2B3,EIF2B4,EIF2B5,EIF4G1,ELOVL4,ELOVL5,ELP2,ENTPD1,EPM2A,ERBB4,ERCC4,ERLIN1,ERLIN2,EXOSC3,EXOSC8,FA2H,FAM126A,FARS2,FASTKD2,FBXO7,FGF12,FGF14,FIG4,FLVCR1,FMR1,FOLR1,FTL,FUS,FXN,GAD1,GALC,GAN,GBA,GBA2,GCH1,GFAP,GIGYF2,GJC2,GLB1,GLDC,GM2A,GNAL,GNAO1,GNB1,GOSR2,GPT2,GRID2,GRIK2,GRM1,GRN,HARS,HEXA,HEXB,HIBCH,HNRNPA1,HNRNPA2B1,HPCA,HSD17B4,HSPD1,HTRA1,HTRA2,HTT,IBA57,IFIH1,IFRD1,INPP5E,ITM2B,ITPR1,KCNA1,KCNA2,KCNC1,KCNC3,KCND3,KCNJ10,KCNK18,KCTD17,KCTD7,KIAA0556,KIAA0586,KIDINS220,KIF1A,KIF1C,KIF5A,KLC2,KMT2B,L1CAM,L2HGDH,LAMA1,LMNB1,LMNB2,LRP4,LRRK2,LYST,MAG,MAPT,MARS2,MATR3,MCOLN1,MECP2,MECR,MED13L,MFSD8,MKS1,MMACHC,MME,MPV17,MPZ,MRE11,MTFMT,MTPAP,MTTP,MYH14,NADK2,NAGLU,NALCN,NDUFV1,NEFH,NEK1,NHLRC1,NIPA1,NKX2-1,NOTCH3,NPC1,NPC2,NPHP1,NT5C2,OPA1,OPA3,OPHN1,OPTN,PANK2,PARK7,PAX6,PC,PCNA,PDE6D,PDGFB,PDGFRB,PDHA1,PDSS2,PDYN,PET100,PEX10,PEX16,PEX6,PEX7,PFN1,PGAP1,PGK1,PHYH,PIBF1,PIK3R5,PINK1,PITRM1,PLA2G6,PLD3,PLEKHG4,PLP1,PMM2,PMPCA,PNKD,PNKP,PNPLA6,PODXL,POLG,POLR1C,POLR3A,POLR3B,PPT1,PRKCG,PRKN,PRKRA,PRNP,PRPS1,PRRT2,PSAP,PSEN1,PSEN2,PTRH2,PTS,RAB39B,REEP1,REEP2,RNASEH2B,RNF170,RNF216,RPGRIP1L,RPL10,RRM2B,RTN2,RUBCN,SACS,SAMD9L,SCARB2,SCN1A,SCN2A,SCN8A,SCO1,SCP2,SCYL1,SERAC1,SERPINI1,SETX,SGCE,SIGMAR1,SIL1,SLC16A2,SLC17A5,SLC1A3,SLC1A4,SLC20A2,SLC25A46,SLC2A1,SLC33A1,SLC4A4,SLC52A2,SLC52A3,SLC6A1,SLC6A3,SLC9A1,SLC9A6,SNAP25,SNCA,SNCB,SNX14,SOD1,SORL1,SOX10,SPART,SPAST,SPG11,SPG21,SPG7,SPR,SPTAN1,SPTBN2,SQSTM1,STUB1,STXBP1,SUFU,SUMF1,SURF1,SYNE1,SYNJ1,SYT14,TACO1,TAF1,TANGO2,TARDBP,TBC1D24,TBCD,TBCE,TBK1,TCTN1,TCTN2,TCTN3,TDP1,TDP2,TECPR2,TENM4,TFG,TGM6,TH,THAP1,TIMM8A,TMEM138,TMEM216,TMEM231,TMEM237,TMEM240,TMEM67,TOR1A,TPK1,TPP1,TRAPPC11,TREM2,TREX1,TRPC3,TSEN54,TSFM,TTBK2,TTC19,TTPA,TTR,TUBA4A,TUBB4A,TWNK,TYROBP,UBA5,UBQLN2,UCHL1,USP8,VAC14,VAMP1,VAPB,VARS2,VCP,VLDLR,VPS11,VPS13A,VPS13C,VPS35,VPS37A,VWA3B,WARS2,WASHC5,WDR45,WDR45B,WDR48,WDR73,WDR81,WFS1,WWOX,XK,XPR1,ZFR,ZFYVE26,ZFYVE27,ZMYND11,ZNF423,ZNF592, | 56 days | LV4231 | +Info |
| Episodic Ataxias | NGS and bioinformatic CNVs screening, 5-gene panel: CACNA1A,CACNB4,KCNA1,SLC1A3,TPK1, | 49 days | LV4233 | +Info |
| Multiple pterygium | NGS and bioinformatic CNVs screening, 5-gene panel: CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG, | 49 days | LV4260 | +Info |
| Dementia | NGS and bioinformatic CNVs screening, 54-gene panel: AARS2,ABCA7,ABCD1,APOE,APP,ATP13A2,ATP1A3,ATP7B,C19orf12,CHCHD10,CHMP2B,CLN3,CLN6,CSF1R,CST3,CTSF,CYP27A1,DCTN1,DNAJC5,DNMT1,EPM2A,ERCC4,FUS,GBA,GRN,HEXA,HNRNPA2B1,HTRA1,ITM2B,MAPT,MMACHC,NHLRC1,NOTCH3,NPC1,NPC2,PRNP,PSEN1,PSEN2,RNF216,SERPINI1,SNCA,SNCB,SQSTM1,TARDBP,TBK1,TREM2,TREX1,TTR,TUBA4A,TWNK,TYROBP,UBQLN2,VCP,WDR45, | 49 days | LV4245 | +Info |
| Insensitivity to pain | NGS and bioinformatic CNVs screening, 6-gene panel: CLTCL1,NGF,NTRK1,PRDM12,SCN11A,SCN9A, | 49 days | LV4264 | +Info |
| Basal ganglia disorders | NGS and bioinformatic CNVs screening, 6-gene panel: PDGFB,PDGFRB,RAB39B,SLC20A2,TREM2,XPR1, | 49 days | LV4254 | +Info |
| Spastic ataxias | NGS and bioinformatic CNVs screening, 7-gene panel: AFG3L2, KIF1C, MARS2, MTPAP, NKX6-2, SACS, VAMP1 | 49 days | LV4234 | +Info |
| Motor and sensory neuropathies, primary and secondary | NGS and bioinformatic CNVs screening, 99-gene panel: AAAS,ABCD1,ABHD12,ACO2,AMPD2,APTX,ARL6IP1,ARSA,ATAD3A,ATL1,ATL3,ATP13A2,B4GALNT1,BSCL2,C12orf65,C19orf12,CAPN1,CCT5,COASY,COQ4,CPOX,CTDP1,CTSD,CYP27A1,DARS2,DCAF8,DCTN1,DGUOK,DHH,DNMT1,DSTYK,EXOSC3,FBLN5,FBXO38,GALC,GAN,GARS,GBA2,GBE1,GCLC,GJC2,GSN,HADHB,HINT1,HK1,HSD17B4,HSPB1,HSPB3,HSPB8,IARS2,IBA57,IGHMBP2,KIF1A,KIF5A,KLC2,LYST,MFN2,MYH14,NDUFA9,OPA1,PDSS1,PDSS2,PEX10,PEX16,PEX7,PHYH,PLA2G6,PLD3,PMM2,PNKP,PNPLA6,POLG,PRX,PSAP,PTRH2,PYROXD1,REEP1,RNASEH1,SCP2,SCYL1,SEPT9,SETX,SLC25A46,SLC52A2,SLC52A3,SOX10,STUB1,SUCLA2,TBC1D24,TBCE,TDP1,TFG,TRPV4,TSFM,TTR,TWNK,TYMP,UBA5,XK, | 49 days | LV4263 | +Info |
| Capillary and Arteriovenous Malformations | NGS AND Sanger sequencing of the RASA1 gene | 42 days | LV3110 | +Info |
| Stiff skin syndrome | NGS and Sanger sequencing FBN1 gene | 42 days | LV2366 | +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 |
| Familial Hemiplegic Migraine 2 | NGS and Sanger sequencing of ATP1A2 gene | 53 days | LV1285 | +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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Usher syndrome, type 1B | NGS and Sanger Sequencing of the MYO7A gene | 42 days | LV1972 | +Info |
| Hajdu-Cheney syndrome | NGS and Sanger Sequencing of the NOTCH2 gene | 42 days | LV1979 | +Info |
| Usher syndrome, type 1F | NGS and Sanger Sequencing of the PCDH15 gene | 42 days | LV1989 | +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 |
| 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 |
| 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 |
| Alpha-Thalassemia, G6PD deficiency, Lesch-Nyhan syndrome, Danon disease. | NGS of 4 gene panel: ATRX, G6PD, HPRT1, LAMP2. | 42 days | LV3017 | +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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Cerebral folate transport deficiency | NGS of 2 gene panel: FOLR1, FUCA1 | 42 days | LV3420 | +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 |
| 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 |
| 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 |
| 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 |
| Glycogen storage disease | NGS of 4 gene panel: G6PC, GYS1, GYS2, SLC37A4 | 42 days | LV3270 | +Info |
| Congenital disorder of glycosylation with epilepsy | NGS of 4 gene panel: LG13, PMM2, RFT1, SLC35A2 | 42 days | LV3407 | +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 |
| Glycoproteinosis, fucosidosis, Mannosidosis, Gklycogenosis type 2 | NGS of 5 gene panel: FUCA1, GAA, LAMP2, MAN2B1, MANBA | 42 days | LV3505 | +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 |
| 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 |
| Coenzyme Q10 deficiency, primary | NGS of 7 gene panel: ADCK3, COQ2, COQ4, COQ6, COQ9, PDSS1, PDSS2 | 42 days | LV3264 | +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 |
| 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 |
| 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 |
| Costello Syndrome | NGS of a 2-gene panel: HRAS, NRAS | 42 days | LV3952 | +Info |
| Leopard syndrome | NGS of a 3-gene panel: BRAF, PTPN11, RAF1 | 42 days | LV3953 | +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 |
| 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 |
| Chorea, hereditary benign | Sanger secuencing of the NKX2-1 gene | 28 days | LV3240 | +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 |
| 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 |
| Opitz G/BBB Syndrome, X-Linked | Sanger sequencing of MID1 gene | 42 days | LV0694 | +Info |
| Campomelic Dysplasia | Sanger sequencing of SOX9 gene | 42 days | LV0773 | +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 |
| Adrenoleukodystrophy | Sanger Sequencing of the ABCD1 gene | 42 days | LV1342 | +Info |
| Chanarin-Dorfman syndrome | Sanger sequencing of the ABHD5 gene | 35 days | LV4109 | +Info |
| Congenital Fiber-Type Disproportion | Sanger Sequencing of the ACTA1 gene | Consult | LV1220 | +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 |
| 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 |
| 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 |
| Metachromatic leukodystrophy | Sanger sequencing of the ARSA gene | 35 days | LV3289 | +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 |
| 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 |
| Bartter type 4A with neurosensorial hearing loss, Syndrome | Sanger Sequencing of the BSND gene | 28 days | LV0483 | +Info |
| Biotinidase deficiency | Sanger sequencing of the BTD gene | 32 days | LV2672 | +Info |
| 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 |
| Hypomagnesemia 3, renal | Sanger Sequencing of the CLDN16 gene | Consult | LV2459 | +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 |
| Warsaw breakage syndrome | Sanger sequencing of the DDX11 gene | 60 days | LV3559 | +Info |
| Smith-Lemli-Opitz Syndrome | Sanger Sequencing of the DHCR7 gene | 35 days | LV0781 | +Info |
| Miotubular myopathy, autosomal dominant | Sanger Sequencing of the DNM2 gene | 42 days | LV0829 | +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 |
| 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 |
| Vici syndrome | Sanger sequencing of the EPG5 gene | 49 days | LV3527 | +Info |
| Epilepsy, progressive myoclonic 2A (Lafora) | Sanger Sequencing of the EPM2A gene | 49 days | LV2318 | +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 |
| Aarskog-Scott syndrome | Sanger Sequencing of the FGD1 gene | 42 days | LV2314 | +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 |
| Epilepsy, generalized, with febrile seizures plus, type 3 | Sanger Sequencing of the GABRG2 gene | Consult | LV1587 | +Info |
| Mucopolysaccharidosis Type IVA | Sanger Sequencing of the GALNS gene | 56 days | LV1343 | +Info |
| Galactosemia | Sanger sequencing of the GALT gene | 35 days | LV4118 | +Info |
| Gaucher disease | Sanger Sequencing of the GBA gene | 46 days | LV2300 | +Info |
| Glycogen storage disease type IV | Sanger Sequencing of the GBE1 gene | Consult | LV0926 | +Info |
| Glutaric Aciduria type 1 | Sanger Sequencing of the GCDH gene | 42 days | LV0487 | +Info |
| Charcot-Marie-Tooth disease, recessive intermediate, A | Sanger Sequencing of the GDAP1 gene | 28 days | LV0202 | +Info |
| Alexander disease | Sanger sequencing of the GFAP gene | 35 days | LV1101 | +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 |
| Glycine encephalopathy | Sanger Sequencing of the GLDC gene | 60 days | LV2289 | +Info |
| Sialuria | Sanger sequencing of the GNE gene | 56 days | LV3493 | +Info |
| Simpson-Golabi-Behmel Syndrome | Sanger sequencing of the GPC3 gene | 53 days | LV3652 | +Info |
| Epilepsy, focal, with speech disorder and with or without mental retardation | Sanger Sequencing of the GRIN2A gene | 42 days | LV2950 | +Info |
| Polyglucosan body myopathy 2 | Sanger sequencing of the GYG1 gene | 84 days | LV3280 | +Info |
| Septooptic Dysplasia | Sanger Sequencing of the HESX1 gene | 42 days | LV1139 | +Info |
| Neuromyotonia and axonal neuropathy, autosomal recessive | Sanger Sequencing of the HINT1 gene | 42 days | LV3069 | +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 |
| Incontinentia Pigmenti | Sanger sequencing of the IKBKG gene | 56 days | LV1460 | +Info |
| Popliteal pterygium syndrome 1 | Sanger sequencing of the IRF6 gene | 35 days | LV3355 | +Info |
| Van der Woude syndrome | Sanger sequencing of the IRF6 gene | 35 days | LV3355 | +Info |
| Isovaleric acidemia | Sanger sequencing of the IVD gene | 35 days | LV3822 | +Info |
| Alagille, type 1 syndrome | Sanger Sequencing of the JAG1 gene | 42 days | LV0236 | +Info |
| 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 |
| 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 |
| Epilepsy Lateral Temporal Lobe, Autosomal Dominant | Sanger Sequencing of the LGI1 gene | Consult | LV1282 | +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 |
| Exudative vitreoretinopathy 4 | 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 |
| 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 |
| 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 |
| MELAS syndrome | Sanger Sequencing of the MT-ND5 mitochondrial gene | 35 days | LV0439 | +Info |
| X-Linked Myotubular Myopathy | Sanger Sequencing of the MTM1 gene | Consult | LV1202 | +Info |
| Centronuclear myopathy, autosomal, modifier of | Sanger sequencing of the MTMR14 gene | 56 days | LV3389 | +Info |
| Methylmalonic Acidemia | Sanger Sequencing of the MUT gene | 35 days | LV0970 | +Info |
| Norrie disease | Sanger Sequencing of the NDP gene | 42 days | LV0538 | +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 |
| Cornelia de Lange Syndrome | Sanger Sequencing of the NIPBL gene | 63 days | LV0881 | +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 |
| 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 |
| Glycogen storage disease X | Sanger Sequencing of the PGAM2 gene | Consult | LV2288 | +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 |
| Brachydactyly with Joint dysplasia (Liebenberg syndrome) | Sanger Sequencing of the PITX1 gene | Consult | LV2277 | +Info |
| Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | Sanger Sequencing of the PITX1 gene | Consult | LV2277 | +Info |
| Axenfeld-Rieger Syndrome | Sanger Sequencing of the PITX2 gene | 35 days | LV2312 | +Info |
| 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 |
| 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 |
| Treacher Collins 2, Syndrome | Sanger Sequencing of the POLR1D gene | 28 days | LV2150 | +Info |
| Epilepsy, progressive myoclonic, 10 | Sanger sequencing of the PRDM8 gene | 42 days | LV3532 | +Info |
| Hyperprolinemia, type I | Sanger Sequencing of the PRODH gene | 35 days | LV3162 | +Info |
| Seizures, benign familial infantile, 3 | Sanger Sequencing of the PRRT2 gene | 35 days | LV2173 | +Info |
| Gorlin, syndrome | Sanger Sequencing of the PTCH1 gene | 42 days | LV0336 | +Info |
| Cowden syndrome | Sanger sequencing of the PTEN gene | 42 days | LV0804 | +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 |
| Polyglucosan body myopathy 1 with or without immunodeficiency | Sanger sequencing of the RBCK1 gene | 53 days | LV3531 | +Info |
| Thrombocytopenia-absent radius syndrome (TAR syndrome) | Sanger sequencing of the RBM8A gene | 32 days | LV2665 | +Info |
| Retinitis pigmentosa (autosomal dominant) | Sanger Sequencing of the RHO gene | Consult | LV0870 | +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 |
| 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 |
| Mitochondrial respiratory chain complex II deficiency | Sanger sequencing of the SDHA gene | 84 days | LV3292 | +Info |
| Amyotrophy, hereditary neuralgic | Sanger Sequencing of the SEPT9 gene | 42 days | LV2171 | +Info |
| MEGDEL syndrome (3-methylglutaconic aciduria with deafness - encephalopathy - Leigh-like syndrome) | Sanger sequencing of the SERAC1 gene | 56 days | LV3387 | +Info |
| Alpha1-antitrypsin deficiency | Sanger sequencing of the SERPINA1 gene | 32 days | LV0721 | +Info |
| Schizencephaly | Sanger Sequencing of the SHH and SIX3 genes | 35 days | LV1284 | +Info |
| Holoprosencephaly | Sanger Sequencing of the SHH gene | 70 days | LV1208 | +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 |
| 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 2 or Dystonia 18. | Sanger Sequencing of the SLC2A1 gene. | 42 days | LV2939 | +Info |
| GLUT1 deficiency syndrome type I. | Sanger Sequencing of the SLC2A1 gene. | 42 days | LV2939 | +Info |
| Glycogen Storage Disease Type 1 B | Sanger Sequencing of the SLC37A4 gene | 28 days | LV1160 | +Info |
| Myoclonic-atonic epilepsy | Sanger sequencing of the SLC6A1 gene | 53 days | LV3654 | +Info |
| Hyperekplexia 3 | Sanger sequencing of the SLC6A5 gene | 84 days | LV3279 | +Info |
| Glycine encephalopathy with normal serum glycine | Sanger sequencing of the SLC6A9 gene | 32 days | LV3751 | +Info |
| 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 |
| 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 |
| 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 |
| 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 |
| Arthrogryposis multiplex congenital, distal, type 2B | Sanger sequencing of the TNNI3 gene | 28 days | LV1347 | +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 |
| 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 |
| Parastremmatic dwarfism | 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 |
| 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 |
| 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 |
| 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 |
| Wolfram syndrome | Sanger Sequencing of the WFS1 gene | 42 days | LV2116 | +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 |
| Neuropathy, Hereditary Sensory and Autonomic, type V | Sequencing of the NGF gene | Consult | LV2252 | +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 |
