| (triplet expansion)Parallel study of Spinocerebellar Ataxias SCA1, SCA2, SCA3, SCA6, SCA7 | 28 days | LV0167 | +Info |
| Spinocerebellar ataxia 10 | ATTCT Expansion detection in the ATXN10 gene | 28 days | LV2917 | +Info |
| Spinal and Bulbar Atrophy, Kennedy type | CAG Expansion detection in the AR gene (SBMA) | 28 days | LV0177 | +Info |
| Dentatorubral-pallidoluysian Atrophy | CAG Expansion detection in the ATN1 gene (DRPLA) | 28 days | LV0176 | +Info |
| Spinocerebellar ataxia 1 (SCA1) | CAG Expansion detection in the ATXN1 gene | 28 days | LV0789 | +Info |
| Spinocerebellar ataxia 2 (SCA2) | CAG Expansion detection in the ATXN2gene by TP-PCR | 28 days | LV1680 | +Info |
| Spinocerebellar ataxia 3 (SCA3) | CAG Expansion detection in the ATXN3 gene | 28 days | LV0791 | +Info |
| Spinocerebellar ataxia 7 (SCA7) | CAG Expansion detection in the ATXN7gene by TP-PCR | 28 days | LV1689 | +Info |
| Spinocerebellar ataxia 8 (SCA8) | CAG Expansion detection in the ATXN8 gene | 28 days | LV0794 | +Info |
| Spinocerebellar ataxia 6 (SCA6) | CAG Expansion detection in the CACNA1A gene | 28 days | LV0792 | +Info |
| Spinocerebellar ataxia 12 (SCA12) | CAG Expansion detection in the PPP2R2B gene | 28 days | LV0795 | +Info |
| Spinocerebellar ataxia 17 (SCA17) | CAG Expansion detection in the TBP gene | 28 days | LV0796 | +Info |
| 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 |
| Facioescapulohumeral Dystrophy, type I | Deletion detection of D4Z4 region (gene DUX4) by Southern Blot | 70 days | LV0675 | +Info |
| Ocular Pharyngeal Muscular Dystrophy | Detection of CGC expansion in the PABPN1 gene | 28 days | LV0327 | +Info |
| Fragile X tremor/ataxia syndrome (FXTAS) | Detection of CGG alleles (normal and expanded) in the FMR1 gene, by PCR and TP-PCR. | 28 days | LV2407 | +Info |
| Huntington disease-like 2 | Detection of CTG expansion in the JPH3 gene | 35 days | LV3997 | +Info |
| Inherited dystonias | Detection of deletions and duplications in the ATP1A3, PRKRA, THAP1, TOR1A genes by MLPA | 28 days | LV4112 | +Info |
| Muscular Dystrophy Limb-Girdle type 2A (LGMD2A) | Detection of deletions and duplications in the CAPN3 gene by MLPA | 28 days | LV4075 | +Info |
| Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | Detection of deletions and duplications in the GCH1 gene by MLPA | 28 days | LV2292 | +Info |
| Infantile neuroaxonal dystrophy 1 | Detection of deletions and duplications in the PLA2G6 gene by MLPA | 28 days | LV3371 | +Info |
| Parkinson disease 14 | Detection of deletions and duplications in the PLA2G6 gene by MLPA | 28 days | LV3371 | +Info |
| Multiminicore Disease | Detection of deletions and duplications in the RYR1 gene by MLPA | 35 days | LV3974 | +Info |
| Segawa syndrome | Detection of deletions and duplications in the TH gene by MLPA | 28 days | LV2293 | +Info |
| Tumor predisposition syndrome | Detection of deletions and/or duplications in BAP1 gene by MLPA | 28 days | LV3080 | +Info |
| Episodic ataxia, type 2 | Detection of deletions and/or duplications in CACNA1A gene by MLPA | 35 days | LV2919 | +Info |
| Familial Hemiplegic Migraine 1 | Detection of deletions and/or duplications in CACNA1A gene by MLPA | 35 days | LV2919 | +Info |
| Spinocerebellar ataxia 6 (SCA6) | Detection of deletions and/or duplications in CACNA1A gene by MLPA | 35 days | LV2919 | +Info |
| Ceroid lipofuscinosis, neuronal, Kufs type, adult onset | Detection of deletions and/or duplications in CLN6 gene by MLPA | 28 days | LV3790 | +Info |
| Muscular Dystrophy, Congenital Merosin-Deficient | Detection of deletions and/or duplications in LAMA2 gene by MLPA | 42 days | LV3920 | +Info |
| Leukodystrophy, adult-onset, autosomal dominant | Detection of deletions and/or duplications in LMNB1 gene by MLPA | 42 days | LV2958 | +Info |
| Epileptic encephalopathy, early infantile, 9; Juberg-Hellman syndrome | Detection of deletions and/or duplications in PCDH19 gene by MLPA | 28 days | LV3787 | +Info |
| Alzheimer disease, Type 3 | Detection of deletions and/or duplications in PSEN1 gene by MLPA | 28 days | LV3079 | +Info |
| Familial Spastic Paraplegia 7 | Detection of deletions and/or duplications in SPG7 gene by MLPA | 28 days | LV2456 | +Info |
| Multiple Cavernomatosis | Detection of deletions and/or duplications inKRIT1, CCM2 y PDCD10 genes by MLPA | 35 days | LV2552 | +Info |
| Melanoma and neural system tumor syndrome | Detection of deletions and/or duplicationsin CDKN2A gene by MLPA | 28 days | LV3081 | +Info |
| 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 |
| Alzheimer disease, Type 1 | Detection of deletions and/orduplications in APP gene by MLPA | 28 days | LV3078 | +Info |
| Porphyria, Acute Intermittent | Detection of deletions/duplications in the ALAD, HMBS, UROS, UROD, CPOX, FECH, PPOX genes by MLPA | 28 days | LV4185 | +Info |
| Porphyria, Acute Intermittent | Detection of deletions/duplications in the ALAD,HMBS, PPOX genes by MLPA | 28 days | LV4186 | +Info |
| Spastic paraplegia 79, autosomal recessive | Detection of deletions/duplications in the DSP and PKP2 genes by MLPA | 28 days | LV4136 | +Info |
| Krabbe disease | Detection of deletions/duplications in the GALC gene by MLPA | 28 days | LV4172 | +Info |
| Optic atrophy 1 | Detection of deletions/duplications in the OPA1 gene by MLPA | 28 days | LV4120 | +Info |
| Spastic paraplegia 79, autosomal recessive | Detection of deletions/duplications in the UCHL1 gene by MLPA | 28 days | LV4178 | +Info |
| Porphyria, Acute Intermittent | Detection of deletions/duplications in the UROS, UROD, CPOX, FECH genes by MLPA | 28 days | LV4188 | +Info |
| Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | Detection of dodecamer repeat expansion in the CSTB gene promoter region | 42 days | LV4220 | +Info |
| Spinal Muscular Atrophy, proximal (SMA) | Detection of homozygous deletion in the SMN1 gene | 28 days | LV0178 | +Info |
| Spinal muscular atrophy-2 | Detection of homozygous deletion in the SMN1 gene | 28 days | LV0178 | +Info |
| Axenfeld-Rieger Syndrome | Detection of large deletions and/or duplications in FOXC1 gene by MLPA | 28 days | LV1567 | +Info |
| Myoclonus Dystonia 11 | Detection of large deletions and/or duplications in SGCE gene by MLPA | 28 days | LV1588 | +Info |
| Spastic paraplegia 3A | Detection of large deletions and/or duplications in the ATL1 gene by MLPA | 28 days | LV2295 | +Info |
| Telangiectasia ataxia | Detection of large deletions and/or duplications in the ATM gene by MLPA | 28 days | LV1463 | +Info |
| Mental retardation, X-linked 21/34 | Detection of large deletions and/or duplications in the IL1RAPL1 gene by MLPA | 28 days | LV3894 | +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 |
| Charcot-Marie-Tooth disease, type 4F | Detection of large deletions and/or duplications in the PRX gene by MLPA | 35 days | LV3900 | +Info |
| Dejerine-Sottas syndrome | Detection of large deletions and/or duplications in the PRX gene by MLPA | 35 days | LV3900 | +Info |
| 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 |
| X-Linked Myotubular Myopathy | Detection of large deletions and/or duplicationsin the MTM1 gene by MLPA | 28 days | LV2167 | +Info |
| Dementia, Lewy body | Detection of large deletions and/or duplicationsin the SNCA gene by MLPA | 35 days | LV3544 | +Info |
| Parkinson disease 1 | Detection of large deletions and/or duplicationsin the SNCA gene by MLPA | 35 days | LV3544 | +Info |
| Parkinson disease 4 | Detection of large deletions and/or duplicationsin the SNCA gene by MLPA | 35 days | LV3544 | +Info |
| Spastic paraplegia 11, autosomal recessive | Detection of large deletions and/or duplicationsin the SPG11 gene by MLPA | 28 days | LV3534 | +Info |
| Neuropathy, Ataxia and Retinitis Pigmentosa | Detection of mutations 8993T>G and 8993T>C in the mitochondrial gene MT-ATP6 | Consult | LV0229 | +Info |
| Leber Hereditary Optic Neuropathy (LHON) | Detection of mutations m.3460G>A , m.11778G>A, m.14484T>C, m.14482C>G, m.14495A>G,m.14498T>C, m.14596A>T in the mitochondrial | 28 days | LV0231 | +Info |
| CMT disease:Screening frequent mutations in Gypsie populations | Detection of mutations:p.C737X and p.R1109X inSH3TC2 gene, p.R148X in NDRG1 gene andc.-40237G>C in HK1 gene | 42 days | LV1555 | +Info |
| Common test of all diseases | Detection of specific mutations | 28 days | LV0051 | +Info |
| Huntington disease | Detection of the CAG expansion in the HTT gene | 28 days | LV0207 | +Info |
| Steinert Myotonic Dystrophy (DM1) | Detection of the CTG expansion in the DMPK geneby TP-PCR | 28 days | LV0193 | +Info |
| Steinert Myotonic Dystrophy (DM1) | Detection of the CTG expansionin the DMPKgene by Southern-Blot | 84 days | LV3746 | +Info |
| Creutzfeldt-Jakob disease | Detection of the octapeptide expansion P-H-G-G-G-W-G-Q in the PRNP gene | 35 days | LV3998 | +Info |
| Huntington disease-like 1 | Detection of the octapeptide expansion P-H-G-G-G-W-G-Q in the PRNP gene | 35 days | LV3998 | +Info |
| 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 |
| Charcot-Marie-Tooth disease, type 1A | Duplication detection of the PMP22 gene by MLPA | 28 days | LV1461 | +Info |
| Neuropathy, Hereditary, with liability to Pressure Palsies (HNPP) | Duplication detection of the PMP22 gene by MLPA | 28 days | LV1461 | +Info |
| Muscular dystrophy, limb-girdle, type 2C | etection of large deletions and/or duplicationsIn SGCG gene by MLPA | 28 days | LV3285 | +Info |
| Clinical Exome Sequencing for diagnosis. | Extension of Directed CLINICAL EXOME to CLINICAL EXOME with diagnostic report (capture of 58Mb) | 42 days | LV4132 | +Info |
| Clinical Exome Sequencing for diagnosis. | Extension of Directed KEY EXOME to Clinical KEY EXOME with diagnostic report (capture of 17Mb) | 42 days | LV4135 | +Info |
| Clinical Exome Sequencing for diagnosis. | Extension of exome analysis to relevantvariants located in research genes. | 42 days | LV3607 | +Info |
| Clinical Exome Sequencing for diagnosis. | Focus clinical Exome of patient, mother and father without report. | 28 days | LV4125 | +Info |
| Clinical Exome Sequencing for diagnosis. | Focus clinical Exome of patient, mother or father without report. | 28 days | LV4124 | +Info |
| Clinical Exome Sequencing for diagnosis. | Focus clinical Exome of patient, without report. | 28 days | LV4123 | +Info |
| Friedreich Ataxia | GAA Expansion detection in the FXN gene | 28 days | LV0032 | +Info |
| Telangiectasia ataxia | geneNGS and Sanger sequencing of theATM | 42 days | LV1015 | +Info |
| Common test of all diseases | Genetic counseling consultation | Consult | LV0033 | +Info |
| Alzheimer disease, Type 1 | Genotyping of the ApoE gene | 28 days | LV0039 | +Info |
| Spinocerebellar ataxia 36 | GGCCTG Expansion detection in the NOP56 gene | 35 days | LV2517 | +Info |
| Genetic Linkage Analysis | Haplotypes analysis (includes three familymembers and four genetic markers) | Consult | LV0036 | +Info |
| Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis | Hexanucleotide expansion detection in a noncoding region of the C9ORF72 gene | 42 days | LV1551 | +Info |
| Huntington disease | Indirect study of Huntington's disease in a family nucleus (up to 5 members) | 28 days | LV4177 | +Info |
| Clinical Exome Sequencing for diagnosis. | Key Exome reanalysis | Consult | LV4170 | +Info |
| Medullary thyroid carcinoma | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +Info |
| Alzheimer disease, Type 1 | Large deletions and duplications detectionin the PSEN1, PSEN2 and APP genes by MLPA | 35 days | LV3747 | +Info |
| Alzheimer disease, Type 3 | Large deletions and duplications detectionin the PSEN1, PSEN2 and APP genes by MLPA | 35 days | LV3747 | +Info |
| Alzheimer disease, Type 4 | Large deletions and duplications detectionin the PSEN1, PSEN2 and APP genes by MLPA | 35 days | LV3747 | +Info |
| Frontotemporal Dementia | Large deletions and duplications detectionin the PSEN1, PSEN2 and APP genes by MLPA | 35 days | LV3747 | +Info |
| Pick disease | Large deletions and duplications detectionin the PSEN1, PSEN2 and APP genes by MLPA | 35 days | LV3747 | +Info |
| Pseudohypoparathyroidism Ib | Methylation analysis and detectionof deletions and/or duplicationsin 20q13.32 GNAS region by MLPA | 35 days | LV2915 | +Info |
| Amyotrophic lateral sclerosis 4, juvenile | Next Generation Sequencing and Sanger Sequencing of the SETX gene | 42 days | LV1357 | +Info |
| Ataxia-oculomotor apraxia 2 | Next Generation Sequencing and Sanger Sequencing of the SETX gene | 42 days | LV1357 | +Info |
| 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 |
| Inherited ataxias X-linked | NGS and bioinformatic CNVs screening, 13-gene panel: ABCB7,ABCD1,ATP2B3,ATP7A,CASK,FMR1,MECP2,OPHN1,PLP1,PRPS1,RPL10,SLC16A2,SLC9A6, | 49 days | LV4240 | +Info |
| Spastic paraplegias. | NGS and bioinformatic CNVs screening, 135-gene panel: ABHD12,ACP5,AFG3L2,AHDC1,ALS2,AMPD2,AP4B1,AP4E1,AP4M1,AP4S1,AP5Z1,ARL6IP1,ARSI,ASNS,ATL1,ATP13A2,ATP2B4,B4GALNT1,BSCL2,C12orf65,C19orf12,CAPN1,CCT5,COASY,CPT1C,CTNNB1,CYP27A1,CYP2U1,CYP7B1,DARS,DDHD1,DDHD2,DNA2,DSTYK,ECHS1,ELOVL4,ELP2,ENTPD1,ERLIN1,ERLIN2,EXOSC3,EXOSC8,FA2H,FARS2,FXN,GAD1,GALC,GAN,GBA2,GFAP,GJC2,GLB1,GM2A,GPT2,GRID2,HEXA,HSD17B4,HSPD1,IBA57,IFIH1,IFRD1,KCND3,KIDINS220,KIF1A,KIF1C,KIF5A,KLC2,L1CAM,L2HGDH,LRP4,LYST,MAG,MARS2,MCOLN1,MECP2,MTPAP,NADK2,NALCN,NIPA1,NPC1,NPC2,NT5C2,OPA1,OPA3,PEX16,PGAP1,PLA2G6,PLP1,PNPLA6,PRNP,PSEN1,REEP1,REEP2,RNASEH2B,RTN2,SACS,SCN8A,SETX,SLC16A2,SLC17A5,SLC1A4,SLC2A1,SLC33A1,SOD1,SPART,SPAST,SPG11,SPG21,SPG7,SPR,SPTAN1,STUB1,STXBP1,SYNE1,SYNJ1,TANGO2,TBCD,TECPR2,TFG,TSEN54,TTC19,TTPA,TTR,UCHL1,USP8,VAMP1,VPS37A,VWA3B,WARS2,WASHC5,WDR45B,WDR48,ZFR,ZFYVE26,ZFYVE27, | 49 days | LV4241 | +Info |
| 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 |
| Parkinson Disease | NGS and bioinformatic CNVs screening, 19-gene panel: ATP13A2,CHCHD2,DNAJC6,EIF4G1,FBXO7,GBA,GIGYF2,HTRA2,LRRK2,MAPT,PARK7,PINK1,PLA2G6,PRKN,SNCA,SYNJ1,UCHL1,VPS13C,VPS35, | 49 days | LV4246 | +Info |
| Inherited ataxias autosomal recessive | NGS and bioinformatic CNVs screening, 199-gene panel: AAAS,AARS2,ABHD12,ABHD5,ACO2,ADCK3,AFG3L2,AHI1,ALG6,ANO10,APTX,ARL13B,ARSA,ASS1,ATAD3A,ATCAY,ATM,ATP13A2,ATP8A2,B4GALNT1,B9D1,BRAT1,C12orf65,C19orf12,C5orf42,CA8,CAPN1,CC2D2A,CEP104,CEP120,CEP290,CEP41,CLCN2,CLN3,CLN5,CLN6,CLN8,CLPP,CNTNAP2,COG5,COQ2,COX10,COX14,COX15,COX20,COX6B1,COX8A,CP,CSPP1,CTDP1,CTSD,CTSF,CWF19L1,CYP27A1,CYP7B1,DARS2,DNAJC19,DNAJC3,DNAJC5,DPM1,ERCC4,EXOSC3,FA2H,FASTKD2,FLVCR1,FOLR1,FXN,GALC,GAN,GBA2,GFAP,GJC2,GLB1,GLDC,GOSR2,GRID2,GRM1,GRN,HARS,HEXA,HEXB,HIBCH,HSD17B4,HTRA1,INPP5E,KCNJ10,KCTD7,KIAA0556,KIAA0586,KIF1A,KIF1C,L2HGDH,LAMA1,LMNB2,LRP4,MARS2,MECR,MFSD8,MKS1,MPV17,MRE11,MTFMT,MTPAP,MTTP,NDUFV1,NPC1,NPC2,NPHP1,OPA3,PANK2,PC,PCNA,PDE6D,PDHA1,PET100,PEX10,PEX16,PEX6,PEX7,PGK1,PHYH,PIBF1,PIK3R5,PITRM1,PLA2G6,PMM2,PMPCA,PNKP,PNPLA6,POLG,POLR1C,POLR3A,POLR3B,PPT1,PSAP,PTRH2,PTS,RNF216,RPGRIP1L,RRM2B,RUBCN,SACS,SCARB2,SCO1,SCYL1,SETX,SIL1,SLC17A5,SLC25A46,SLC52A2,SLC52A3,SLC9A1,SNX14,SPG11,SPG7,SPR,SPTBN2,SQSTM1,STUB1,SUFU,SUMF1,SURF1,SYNE1,SYT14,TACO1,TANGO2,TBC1D24,TBCE,TCTN1,TCTN2,TCTN3,TDP1,TDP2,TMEM138,TMEM216,TMEM231,TMEM237,TMEM67,TPK1,TPP1,TRAPPC11,TSFM,TTC19,TTPA,TWNK,UBA5,UCHL1,VARS2,VLDLR,VWA3B,WARS2,WDR73,WDR81,WFS1,WWOX,ZFYVE26,ZMYND11,ZNF423,ZNF592, | 49 days | LV4239 | +Info |
| Mediterranean fever and episodic fever | NGS and bioinformatic CNVs screening, 2-gene panel: MEFV,NLRP3, | 49 days | LV4266 | +Info |
| Family dyskinecia with episodic and facial myochemy | NGS and bioinformatic CNVs screening, 2-gene panel: ADCY5,PRRT2, | 49 days | LV4255 | +Info |
| Essential Tremor | NGS and bioinformatic CNVs screening, 2-gene panel: FUS,TENM4, | 49 days | LV4250 | +Info |
| Neurofibromatosis, type 1 | NGS and bioinformatic CNVs screening, 2-gene panel: NF1, NF2 | 35 days | LV4360 | +Info |
| Neurofibromatosis, type 2 | NGS and bioinformatic CNVs screening, 2-gene panel: NF1, NF2 | 35 days | LV4360 | +Info |
| Friedreich ataxia and differential diagnosis | NGS and bioinformatic CNVs screening, 20-gene panel: ABCB7,APTX,ATCAY,ATM,CTDP1,CYP27A1,FXN,MRE11,MTTP,PCNA,PDHA1,PEX10,PEX16,PEX6,PEX7,PHYH,SETX,SIL1,SYNE1,TTPA, | 49 days | LV4237 | +Info |
| Arthrogryposis and congenital contractures | NGS and bioinformatic CNVs screening, 20-gene panel: ADCY6,ADGRG6,CNTNAP1,COQ7,DNM2,ECEL1,ERBB3,FBN2,GLDN,GLE1,MYBPC1,MYH3,MYH8,NEK9,PIEZO2,PIP5K1C,TNNI2,TNNT3,TPM2,ZBTB42, | 49 days | LV4269 | +Info |
| 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 |
| Amyotrophic lateral sclerosis | NGS and bioinformatic CNVs screening, 26-gene panel: ALS2,ANG,C9orf72,CHCHD10,CHMP2B,DCTN1,ERBB4,FIG4,FUS,HNRNPA1,MATR3,NEFH,NEK1,OPTN,PFN1,SETX,SIGMAR1,SOD1,SPG11,SQSTM1,TARDBP,TBK1,TUBA4A,UBQLN2,VAPB,VCP, | 49 days | LV4247 | +Info |
| Inherited ataxias | NGS and bioinformatic CNVs screening, 269-gene panel: AAAS,AARS2,ABCB7,ABCD1,ABHD12,ABHD5,ACO2,AFG3L2,AHI1,ALG6,ANO10,APTX,ARL13B,ARSA,ASS1,ATAD3A,ATCAY,ATM,ATP13A2,ATP1A2,ATP1A3,ATP2B3,ATP7A,ATP8A2,B4GALNT1,B9D1,BRAT1,C12orf65,C19orf12,C5orf42,CA8,CACNA1A,CACNA1C,CACNA1G,CACNB4,CAMTA1,CAPN1,CASK,CC2D2A,CCDC88C,CEP104,CEP120,CEP290,CEP41,CLCN2,CLN3,CLN5,CLN6,CLN8,CLPP,CNTNAP2,COG5,COQ2,COX10,COX14,COX15,COX20,COX6B1,COX8A,CP,CSF1R,CSPP1,CTBP1,CTDP1,CTSD,CTSF,CWF19L1,CYP27A1,CYP7B1,DARS2,DNAJC19,DNAJC3,DNAJC5,DNMT1,DPM1,EBF3,EEF2,ELOVL4,ELOVL5,ERCC4,EXOSC3,FA2H,FASTKD2,FGF12,FGF14,FLVCR1,FMR1,FOLR1,FTL,FXN,GALC,GAN,GBA2,GFAP,GJC2,GLB1,GLDC,GOSR2,GRID2,GRM1,GRN,HARS,HEXA,HEXB,HIBCH,HSD17B4,HTRA1,IFRD1,INPP5E,ITM2B,ITPR1,KCNA1,KCNA2,KCNC1,KCNC3,KCND3,KCNJ10,KCTD7,KIAA0556,KIAA0586,KIF1A,KIF1C,L2HGDH,LAMA1,LMNB1,LMNB2,LRP4,MARS2,MECP2,MECR,MED13L,MFSD8,MKS1,MME,MPV17,MPZ,MRE11,MTFMT,MTPAP,MTTP,NAGLU,NDUFV1,NKX2-1,NPC1,NPC2,NPHP1,OPA1,OPA3,OPHN1,PANK2,PAX6,PC,PCNA,PDE6D,PDHA1,PDYN,PET100,PEX10,PEX16,PEX6,PEX7,PGK1,PHYH,PIBF1,PIK3R5,PITRM1,PLA2G6,PLD3,PLEKHG4,PLP1,PMM2,PMPCA,PNKP,PNPLA6,POLG,POLR1C,POLR3A,POLR3B,PPT1,PRKCG,PRNP,PRPS1,PSAP,PSEN1,PTRH2,PTS,RNF170,RNF216,RPGRIP1L,RPL10,RRM2B,RUBCN,SACS,SAMD9L,SCARB2,SCN2A,SCN8A,SCO1,SCYL1,SETX,SIL1,SLC16A2,SLC17A5,SLC1A3,SLC20A2,SLC25A46,SLC2A1,SLC52A2,SLC52A3,SLC6A1,SLC9A1,SLC9A6,SNAP25,SNX14,SOX10,SPG11,SPG7,SPR,SPTBN2,SQSTM1,STUB1,SUFU,SUMF1,SURF1,SYNE1,SYT14,TACO1,TANGO2,TBC1D24,TBCE,TCTN1,TCTN2,TCTN3,TDP1,TDP2,TGM6,TMEM138,TMEM216,TMEM231,TMEM237,TMEM240,TMEM67,TPK1,TPP1,TRAPPC11,TRPC3,TSFM,TTBK2,TTC19,TTPA,TTR,TUBB4A,TWNK,UBA5,UCHL1,VAMP1,VARS2,VLDLR,VWA3B,WARS2,WDR73,WDR81,WFS1,WWOX,ZFYVE26,ZMYND11,ZNF423,ZNF592, ADCK3 | 49 days | LV4229 | +Info |
| Myasthenia | NGS and bioinformatic CNVs screening, 28-gene panel: AGRN,ALG13,ALG14,ALG2,CHAT,CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG,COL13A1,COLQ,DOK7,DPAGT1,GFPT1,LAMB2,LRP4,MUSK,PREPL,PTPN22,RAPSN,SCN4A,SLC18A3,SLC25A1,SLC5A7,SNAP25,SYT2,UNC13A, | 49 days | LV4259 | +Info |
| Myasthenic syndromes, congenital | NGS and bioinformatic CNVs screening, 28-gene panel: AGRN,ALG13,ALG14,ALG2,CHAT,CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG,COL13A1,COLQ,DOK7,DPAGT1,GFPT1,LAMB2,LRP4,MUSK,PREPL,PTPN22,RAPSN,SCN4A,SLC18A3,SLC25A1,SLC5A7,SNAP25,SYT2,UNC13A, | 49 days | LV4259 | +Info |
| 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 |
| Leukodystrophies and Leukoencephalopathies | NGS and bioinformatic CNVs screening, 32-gene panel: AARS2,ABAT,ABCD1,AIMP1,ARSA,CLCN2,CSF1R,DARS,DARS2,EARS2,EIF2B1,EIF2B2,EIF2B3,EIF2B4,EIF2B5,FAM126A,GALC,GJC2,HSPD1,HTRA1,LMNB1,NOTCH3,PLP1,POLR1C,POLR3A,POLR3B,PSAP,SCP2,TREM2,TREX1,TUBB4A,VPS11, | 49 days | LV4242 | +Info |
| Primary and secondary tremor | NGS and bioinformatic CNVs screening, 34-gene panel: AARS2,ADAR,ANO3,APTX,ATP13A2,ATP7B,CTSF,DPM1,ERCC4,FUS,GOSR2,GPT2,GRIK2,KCNA2,KCNC1,KIF1C,LYST,MMACHC,MTFMT,MYH14,PDSS2,PMPCA,POLR1C,POLR3B,PTS,SCARB2,SCYL1,SLC20A2,SLC6A1,SLC9A1,STXBP1,TENM4,TMEM240,WFS1, | 49 days | LV4249 | +Info |
| Limb-girdle muscular dystrophies | NGS and bioinformatic CNVs screening, 35-gene panel: ANO5,BVES,CAPN3,CAV3,COL6A1,COL6A2,COL6A3,DAG1,DNAJB6,DPM3,DYSF,FKRP,FKTN,GMPPB,HNRNPDL,ISPD,LAMA2,LIMS2,MYOT,PLEC,POGLUT1,POMGNT1,POMGNT2,POMK,POMT1,POMT2,SGCA,SGCB,SGCD,SGCG,TCAP,TNPO3,TRAPPC11,TRIM32,TTN, | 49 days | LV4273 | +Info |
| Parkinson disease, Parkinsonism | NGS and bioinformatic CNVs screening, 36-gene panel: APOE,ATP13A2,ATP1A3,ATP6AP2,C19orf12,C9orf72,CHCHD2,CLN3,DCTN1,DNAJC5,DNAJC6,EIF4G1,FBXO7,FMR1,FTL,GBA,GIGYF2,GRN,HTRA2,LRRK2,MAPT,PARK7,PINK1,PLA2G6,PODXL,POLG,PRKN,RAB39B,SLC6A3,SNCA,SYNJ1,TAF1,TH,UCHL1,VPS13C,VPS35, | 49 days | LV4248 | +Info |
| Ataxia and oculomotor apraxia | NGS and bioinformatic CNVs screening, 4-gene panel: APTX,PIK3R5,PNKP,SETX, | 49 days | LV4232 | +Info |
| Myotonia, congenital paramyotonia, neuromyotonia and Schwartz-Jampel 1, syndrome | NGS and bioinformatic CNVs screening, 4-gene panel: CLCN1,HINT1,HSPG2,SCN4A, | 49 days | LV4271 | +Info |
| Spinocerebellar ataxias | NGS and bioinformatic CNVs screening, 41-gene panel: AFG3L2,ANO10,ATP2B3,CACNA1G,CCDC88C,CWF19L1,EEF2,ELOVL4,ELOVL5,FGF14,GRID2,GRM1,IFRD1,ITPR1,KCNC3,KCND3,MME,PDYN,PLD3,PMPCA,PRKCG,RUBCN,SCYL1,SLC9A1,SLC9A6,SNX14,SPTBN2,STUB1,SYNE1,SYT14,TDP1,TDP2,TGM6,TMEM240,TPP1,TRPC3,TTBK2,UBA5,VWA3B,WWOX,ZNF592, | 49 days | LV4235 | +Info |
| Neuromuscular axis disorders: Charcot Marie Tooth, Neuropathies, Myasthenias, Myotonias, Myopathies and Muscular Dystrophies | NGS and bioinformatic CNVs screening, 452-gene panel: AAAS,AARS,ABCD1,ABHD12,ABHD5,ACAD9,ACADM,ACADS,ACADVL,ACBD5,ACO2,ACTA1,ACTG2,ACVR2B,ADCY6,ADGRG6,AGK,AGL,AGPAT2,AGRN,AIFM1,ALDOA,ALG13,ALG14,ALG2,AMPD1,AMPD2,ANO5,APOPT1,APTX,AR,ARHGEF10,ARL6IP1,ARSA,ASAH1,ASCC1,ATAD3A,ATL1,ATL3,ATP13A2,ATP2A1,ATP7A,B3GALNT2,B4GALNT1,B4GAT1,BAG3,BCS1L,BICD2,BIN1,BSCL2,BVES,C12orf65,C19orf12,CACNA1S,CAPN1,CAPN3,CASQ1,CAV1,CAV3,CCDC78,CCT5,CFL2,CHAT,CHCHD10,CHKB,CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG,CIDEC,CLCN1,CLTCL1,CNTN1,CNTNAP1,COA5,COASY,COL12A1,COL13A1,COL6A1,COL6A2,COL6A3,COL9A3,COLQ,COQ2,COQ4,COQ7,COQ9,COX10,COX14,COX15,COX20,COX6A1,COX6A2,COX6B1,COX8A,CPOX,CPT1B,CPT2,CRYAB,CTDP1,CTSD,CYP27A1,CYP2C8,DAG1,DARS2,DCAF8,DCTN1,DES,DGUOK,DHH,DHTKD1,DLAT,DMD,DNA2,DNAJB2,DNAJB6,DNAJC19,DNM1L,DNM2,DNMT1,DOK7,DOLK,DPAGT1,DPM1,DPM2,DPM3,DST,DSTYK,DYNC1H1,DYSF,EARS2,ECEL1,ECHS1,EGR2,ELAC2,EMD,ENO3,ERBB3,ETFA,ETFB,ETFDH,EXOSC3,EXOSC8,FAM111B,FARS2,FASTKD2,FBLN5,FBN2,FBXL4,FBXO38,FDX1L,FGD4,FHL1,FHL2,FIG4,FKBP14,FKRP,FKTN,FLAD1,FLNC,FOXRED1,GAA,GALC,GAN,GARS,GBA2,GBE1,GCLC,GDAP1,GFER,GFM1,GFPT1,GJB1,GJC2,GLB1,GLDN,GLE1,GMPPB,GNB4,GNE,GSN,GYG1,GYS1,HADHA,HADHB,HARS,HIBCH,HINT1,HK1,HNRNPA1,HNRNPA2B1,HNRNPDL,HOXD10,HRAS,HSD17B4,HSPB1,HSPB3,HSPB8,HSPG2,HTRA2,IARS2,IBA57,IGHMBP2,IKBKAP,INF2,INPP5K,ISCU,ISPD,ITGA7,ITGA9,KARS,KBTBD13,KCNJ2,KIF1A,KIF1B,KIF5A,KLC2,KLHL40,KLHL41,LAMA2,LAMB2,LAMP2,LARGE1,LDB3,LDHA,LIMS2,LIPE,LITAF,LMNA,LMNB2,LMOD3,LPIN1,LRP4,LRSAM1,LYRM7,LYST,MARS,MATR3,MED25,MEFV,MEGF10,MFN2,MGME1,MICU1,MME,MORC2,MPV17,MPZ,MSTN,MTAP,MTHFR,MTM1,MTMR14,MTMR2,MUSK,MYBPC1,MYF6,MYH14,MYH2,MYH3,MYH7,MYH8,MYOT,MYPN,NAGLU,NALCN,NARS2,NDRG1,NDUFA11,NDUFA12,NDUFA9,NDUFAF1,NDUFAF4,NDUFAF6,NDUFB3,NDUFS4,NDUFV2,NEB,NEFH,NEFL,NEK9,NFU1,NGF,NLRP3,NTRK1,NUBPL,OPA1,ORAI1,PABPN1,PAX7,PDK3,PDSS1,PDSS2,PET100,PEX10,PEX16,PEX7,PFKM,PGAM2,PGK1,PGM1,PHKA1,PHKB,PHYH,PIEZO2,PIP5K1C,PLA2G6,PLD3,PLEC,PLEKHG5,PLIN1,PMM2,PMP22,PNKP,PNPLA2,PNPLA6,PNPLA8,POGLUT1,POLG,POLG2,POMGNT1,POMGNT2,POMK,POMT1,POMT2,PPARG,PRDM12,PREPL,PRKAG2,PRPS1,PRX,PSAP,PSMB8,PTPN22,PTRF,PTRH2,PUS1,PYGM,PYROXD1,RAB7A,RAPSN,RBCK1,REEP1,RETREG1,RNASEH1,RRM2B,RXYLT1,RYR1,SARS2,SBF1,SBF2,SCN11A,SCN4A,SCN9A,SCO1,SCO2,SCP2,SCYL1,SDHA,SDHAF1,SDHD,SELENON,SEPT9,SERAC1,SETX,SGCA,SGCB,SGCD,SGCG,SH3TC2,SIGMAR1,SLC16A1,SLC18A3,SLC22A5,SLC25A1,SLC25A20,SLC25A26,SLC25A32,SLC25A4,SLC25A46,SLC35A2,SLC52A2,SLC52A3,SLC5A7,SMCHD1,SMPD1,SNAP25,SOX10,SPEG,SPG11,SPTLC1,SPTLC2,SQSTM1,STAC3,STIM1,STUB1,SUCLA2,SUCLG1,SURF1,SYNE1,SYNE2,SYT2,TACO1,TANGO2,TAZ,TBC1D24,TBCD,TBCE,TCAP,TDP1,TFG,TIA1,TK2,TMEM126B,TMEM43,TNNI2,TNNT1,TNNT3,TNPO3,TOR1AIP1,TPM2,TPM3,TRAPPC11,TRIM2,TRIM32,TRIP4,TRMT10C,TRMT5,TRPV4,TSFM,TTC19,TTN,TTR,TWNK,TXN2,TYMP,UBA1,UBA5,UNC13A,VAPB,VARS2,VCP,VMA21,VRK1,WARS2,WNK1,XK,YARS,YARS2,ZBTB42,ZC4H2, | 56 days | LV4256 | +Info |
| Movement disorders (Ataxias, Paraplegias, Leukodystrophies, Migraines, Amyotrophic Lateral Sclerosis, Parkinson, Tremor, Dystonias, Korea, Dementias, Alzheimer) | NGS and bioinformatic CNVs screening, 455-gene panel: AAAS,AARS2,ABAT,ABCA7,ABCB7,ABCD1,ABHD12,ABHD5,ACO2,ACP5,ACTB,ADAR,ADCK3,ADCY5,AFG3L2,AHDC1,AHI1,AIMP1,ALDH18A1,ALG6,ALS2,AMPD2,ANG,ANO10,ANO3,AP4B1,AP4E1,AP4M1,AP4S1,AP5Z1,APOE,APP,APTX,ARL13B,ARL6IP1,ARSA,ARSI,ASNS,ASS1,ATAD3A,ATCAY,ATL1,ATM,ATP13A2,ATP1A2,ATP1A3,ATP2B3,ATP2B4,ATP6AP2,ATP7A,ATP7B,ATP8A2,B4GALNT1,B9D1,BRAT1,BSCL2,C12orf65,C19orf12,C5orf42,C9orf72,CA8,CACNA1A,CACNA1C,CACNA1G,CACNB4,CAMTA1,CAPN1,CARS2,CASK,CC2D2A,CCDC88C,CCT5,CEP104,CEP120,CEP290,CEP41,CHCHD10,CHCHD2,CHMP2B,CIZ1,CLCN2,CLN3,CLN5,CLN6,CLN8,CLPP,CNTNAP2,COASY,COG5,COL4A1,COL4A2,COL6A3,COQ2,COQ9,COX10,COX14,COX15,COX20,COX6B1,COX8A,CP,CPT1C,CSF1R,CSNK1D,CSPP1,CST3,CTBP1,CTDP1,CTNNB1,CTSD,CTSF,CWF19L1,CYP27A1,CYP2U1,CYP7B1,DARS,DARS2,DCTN1,DDHD1,DDHD2,DNA2,DNAJC19,DNAJC3,DNAJC5,DNAJC6,DNMT1,DPM1,DSTYK,EARS2,EBF3,ECHS1,EEF2,EIF2B1,EIF2B2,EIF2B3,EIF2B4,EIF2B5,EIF4G1,ELOVL4,ELOVL5,ELP2,ENTPD1,EPM2A,ERBB4,ERCC4,ERLIN1,ERLIN2,EXOSC3,EXOSC8,FA2H,FAM126A,FARS2,FASTKD2,FBXO7,FGF12,FGF14,FIG4,FLVCR1,FMR1,FOLR1,FTL,FUS,FXN,GAD1,GALC,GAN,GBA,GBA2,GCH1,GFAP,GIGYF2,GJC2,GLB1,GLDC,GM2A,GNAL,GNAO1,GNB1,GOSR2,GPT2,GRID2,GRIK2,GRM1,GRN,HARS,HEXA,HEXB,HIBCH,HNRNPA1,HNRNPA2B1,HPCA,HSD17B4,HSPD1,HTRA1,HTRA2,HTT,IBA57,IFIH1,IFRD1,INPP5E,ITM2B,ITPR1,KCNA1,KCNA2,KCNC1,KCNC3,KCND3,KCNJ10,KCNK18,KCTD17,KCTD7,KIAA0556,KIAA0586,KIDINS220,KIF1A,KIF1C,KIF5A,KLC2,KMT2B,L1CAM,L2HGDH,LAMA1,LMNB1,LMNB2,LRP4,LRRK2,LYST,MAG,MAPT,MARS2,MATR3,MCOLN1,MECP2,MECR,MED13L,MFSD8,MKS1,MMACHC,MME,MPV17,MPZ,MRE11,MTFMT,MTPAP,MTTP,MYH14,NADK2,NAGLU,NALCN,NDUFV1,NEFH,NEK1,NHLRC1,NIPA1,NKX2-1,NOTCH3,NPC1,NPC2,NPHP1,NT5C2,OPA1,OPA3,OPHN1,OPTN,PANK2,PARK7,PAX6,PC,PCNA,PDE6D,PDGFB,PDGFRB,PDHA1,PDSS2,PDYN,PET100,PEX10,PEX16,PEX6,PEX7,PFN1,PGAP1,PGK1,PHYH,PIBF1,PIK3R5,PINK1,PITRM1,PLA2G6,PLD3,PLEKHG4,PLP1,PMM2,PMPCA,PNKD,PNKP,PNPLA6,PODXL,POLG,POLR1C,POLR3A,POLR3B,PPT1,PRKCG,PRKN,PRKRA,PRNP,PRPS1,PRRT2,PSAP,PSEN1,PSEN2,PTRH2,PTS,RAB39B,REEP1,REEP2,RNASEH2B,RNF170,RNF216,RPGRIP1L,RPL10,RRM2B,RTN2,RUBCN,SACS,SAMD9L,SCARB2,SCN1A,SCN2A,SCN8A,SCO1,SCP2,SCYL1,SERAC1,SERPINI1,SETX,SGCE,SIGMAR1,SIL1,SLC16A2,SLC17A5,SLC1A3,SLC1A4,SLC20A2,SLC25A46,SLC2A1,SLC33A1,SLC4A4,SLC52A2,SLC52A3,SLC6A1,SLC6A3,SLC9A1,SLC9A6,SNAP25,SNCA,SNCB,SNX14,SOD1,SORL1,SOX10,SPART,SPAST,SPG11,SPG21,SPG7,SPR,SPTAN1,SPTBN2,SQSTM1,STUB1,STXBP1,SUFU,SUMF1,SURF1,SYNE1,SYNJ1,SYT14,TACO1,TAF1,TANGO2,TARDBP,TBC1D24,TBCD,TBCE,TBK1,TCTN1,TCTN2,TCTN3,TDP1,TDP2,TECPR2,TENM4,TFG,TGM6,TH,THAP1,TIMM8A,TMEM138,TMEM216,TMEM231,TMEM237,TMEM240,TMEM67,TOR1A,TPK1,TPP1,TRAPPC11,TREM2,TREX1,TRPC3,TSEN54,TSFM,TTBK2,TTC19,TTPA,TTR,TUBA4A,TUBB4A,TWNK,TYROBP,UBA5,UBQLN2,UCHL1,USP8,VAC14,VAMP1,VAPB,VARS2,VCP,VLDLR,VPS11,VPS13A,VPS13C,VPS35,VPS37A,VWA3B,WARS2,WASHC5,WDR45,WDR45B,WDR48,WDR73,WDR81,WFS1,WWOX,XK,XPR1,ZFR,ZFYVE26,ZFYVE27,ZMYND11,ZNF423,ZNF592, | 56 days | LV4231 | +Info |
| Alzheimer disease | NGS and bioinformatic CNVs screening, 5-gene panel: ABCA7,APP,PSEN1,PSEN2,SORL1,, and APOE, | 49 days | LV4253 | +Info |
| Episodic Ataxias | NGS and bioinformatic CNVs screening, 5-gene panel: CACNA1A,CACNB4,KCNA1,SLC1A3,TPK1, | 49 days | LV4233 | +Info |
| Multiple pterygium | NGS and bioinformatic CNVs screening, 5-gene panel: CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG, | 49 days | LV4260 | +Info |
| Charcot-Marie-Tooth Disease | NGS and bioinformatic CNVs screening, 54-gene panel: AARS,AIFM1,ARHGEF10,COX6A1,DHTKD1,DNAJB2,DNM2,DYNC1H1,EGR2,FGD4,FIG4,GARS,GDAP1,GJB1,GNB4,HARS,HK1,HOXD10,HSPB1,HSPB8,IGHMBP2,INF2,KARS,KIF1B,LITAF,LMNA,LRSAM1,MARS,MED25,MFN2,MME,MORC2,MPV17,MPZ,MTMR2,NAGLU,NDRG1,NEFH,NEFL,PDK3,PLEKHG5,PMP22,PRPS1,PRX,RAB7A,SBF1,SBF2,SH3TC2,SPG11,SURF1,TRIM2,TRPV4,VCP,YARS, | 49 days | LV4258 | +Info |
| Dementia | NGS and bioinformatic CNVs screening, 54-gene panel: AARS2,ABCA7,ABCD1,APOE,APP,ATP13A2,ATP1A3,ATP7B,C19orf12,CHCHD10,CHMP2B,CLN3,CLN6,CSF1R,CST3,CTSF,CYP27A1,DCTN1,DNAJC5,DNMT1,EPM2A,ERCC4,FUS,GBA,GRN,HEXA,HNRNPA2B1,HTRA1,ITM2B,MAPT,MMACHC,NHLRC1,NOTCH3,NPC1,NPC2,PRNP,PSEN1,PSEN2,RNF216,SERPINI1,SNCA,SNCB,SQSTM1,TARDBP,TBK1,TREM2,TREX1,TTR,TUBA4A,TWNK,TYROBP,UBQLN2,VCP,WDR45, | 49 days | LV4245 | +Info |
| Inherited dystonias | NGS and bioinformatic CNVs screening, 56-gene panel: AARS2,ACTB,ADAR,ADCY5,ANO3,APTX,ARSA,ATP13A2,ATP1A3,ATP7B,B4GALNT1,CARS2,CIZ1,COL4A1,COL6A3,COQ9,EARS2,ECHS1,FTL,GCH1,GM2A,GNAL,GNAO1,GNB1,HNRNPA2B1,HPCA,KCTD17,KMT2B,MCOLN1,MECP2,MECR,NADK2,PANK2,PNKD,POLR3A,PRKRA,PRRT2,PTS,SCP2,SERAC1,SGCE,SLC2A1,SLC6A3,SPR,TAF1,TH,THAP1,TIMM8A,TOR1A,TRAPPC11,TSFM,TTC19,TUBB4A,VAC14,WARS2,WDR45, | 49 days | LV4251 | +Info |
| Insensitivity to pain | NGS and bioinformatic CNVs screening, 6-gene panel: CLTCL1,NGF,NTRK1,PRDM12,SCN11A,SCN9A, | 49 days | LV4264 | +Info |
| Basal ganglia disorders | NGS and bioinformatic CNVs screening, 6-gene panel: PDGFB,PDGFRB,RAB39B,SLC20A2,TREM2,XPR1, | 49 days | LV4254 | +Info |
| Inherited ataxias autosomal dominant | NGS and bioinformatic CNVs screening, 64-gene panel: ATAD3A,ATP1A2,ATP1A3,CACNA1A,CACNA1C,CACNA1G,CACNB4,CAMTA1,CCDC88C,CSF1R,CTBP1,DNMT1,EBF3,EEF2,ELOVL4,ELOVL5,FGF12,FGF14,FTL,GRM1,IFRD1,ITM2B,ITPR1,KCNA1,KCNA2,KCNC1,KCNC3,KCND3,LMNB1,LRP4,MED13L,MME,MPZ,NAGLU,NKX2-1,OPA1,PAX6,PDYN,PLD3,PLEKHG4,POLG,PRKCG,PRNP,PSEN1,RNF170,SAMD9L,SCN2A,SCN8A,SLC1A3,SLC20A2,SLC2A1,SLC6A1,SNAP25,SOX10,SPR,TGM6,TMEM240,TRPC3,TTBK2,TTR,TUBB4A,TWNK,VAMP1,ZNF423, | 49 days | LV4238 | +Info |
| Spastic ataxias | NGS and bioinformatic CNVs screening, 7-gene panel: AFG3L2, KIF1C, MARS2, MTPAP, NKX6-2, SACS, VAMP1 | 49 days | LV4234 | +Info |
| Nervous System/Brain Tumors | NGS and bioinformatic CNVs screening, 7-gene panel: NF1, NF2, POT1, RB1, TSC1, TSC2, VHL | 42 days | LV4359 | +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 |
| 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 |
| Neurofibromatosis, type 1 | NGS and sequential detection of deletions and duplications by MLPA of the NF1 gene (gDNA) | 49 days | LV3971 | +Info |
| Tuberous Sclerosis | NGS of 2 gene panel:TSC1, TSC2 | 42 days | LV3172 | +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 |
| Tremor, hereditary essential, Chorea, hereditary benign, Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Basal ganglia calcification. | NGS of 4 gene panel: FUS, NKX2-1, PDGFB, SLC20A2 | 42 days | LV3114 | +Info |
| Chorea, hereditary benign | Sanger secuencing of the NKX2-1 gene | 28 days | LV3240 | +Info |
| Sjogren-Larsson, Syndrome | Sanger Sequencing of ALDH3A2 gene | 46 days | LV2280 | +Info |
| Charcot-Marie-Tooth disease, type 2A2 | Sanger Sequencing of MFN2 gene | 42 days | LV0495 | +Info |
| Adrenoleukodystrophy | Sanger Sequencing of the ABCD1 gene | 42 days | LV1342 | +Info |
| Congenital Fiber-Type Disproportion | Sanger Sequencing of the ACTA1 gene | Consult | LV1220 | +Info |
| Polyarteritis Nodosa, childhood-onset (PAN) | Sanger sequencing of the ADA2 (CECR1) gene | 42 days | LV3792 | +Info |
| Alstrom syndrome | Sanger Sequencing of the ALMS1 gene | 84 days | LV2331 | +Info |
| Myoadenylate deaminase deficiency | Sanger Sequencing of the AMPD1 gene | Consult | LV2895 | +Info |
| Alzheimer disease, Type 1 | Sanger Sequencing of the APP gene | 42 days | LV0197 | +Info |
| Ataxia-oculomotor apraxia 1 | Sanger sequencing of the APTX gene | Consult | LV1356 | +Info |
| Diabetes insipidus, neurohypophyseal | Sanger Sequencing of the AVP gene | 35 days | LV2963 | +Info |
| Tumor predisposition syndrome | Sanger Sequencing of the BAP1 gene | Consult | LV2964 | +Info |
| Butyrylcholinesterase Deficiency | Sanger Sequencing of the BCHE gene | 42 days | LV0962 | +Info |
| Muscular dystrophy, limb-girdle, type IC | Sanger Sequencing of the CAV3 gene | 35 days | LV2405 | +Info |
| Homocystinuria, B6-responsive and nonresponsive types | Sanger Sequencing of the CBS gene | 35 days | LV2599 | +Info |
| Multiple Cavernomatosis | Sanger Sequencing of the CCM2 gene | 42 days | LV1258 | +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 |
| Hypomagnesemia 3, renal | Sanger Sequencing of the CLDN16 gene | Consult | LV2459 | +Info |
| Corneal dystrophy polymorphous posterior, 2 | Sanger Sequencing of the COL8A2 gene | Consult | LV2583 | +Info |
| Corneal dystrophy, Fuchs endothelial, 1 | Sanger Sequencing of the COL8A2 gene | Consult | LV2583 | +Info |
| CPT deficiency, hepatic, type II | Sanger sequencing of the CPT2 | 35 days | LV3380 | +Info |
| CPT II deficiency, lethal neonatal | Sanger sequencing of the CPT2 | 35 days | LV3380 | +Info |
| Myopathy due to CPT II deficiency | Sanger sequencing of the CPT2 | 35 days | LV3380 | +Info |
| Leukoencephalopathy, diffuse hereditary, with spheroids | Sanger sequencing of the CSF1R gene | 42 days | LV3088 | +Info |
| Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | Sanger sequencing of the CSTB gene | 42 days | LV4200 | +Info |
| Warsaw breakage syndrome | Sanger sequencing of the DDX11 gene | 60 days | LV3559 | +Info |
| Ceroid lipofuscinosis, neuronal, 4, Parry type | Sanger Sequencing of the DNAJC5 gene | Consult | LV3064 | +Info |
| Miotubular myopathy, autosomal dominant | Sanger Sequencing of the DNM2 gene | 42 days | LV0829 | +Info |
| Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | Sanger sequencing of the ECHS1 gene | 35 days | LV4076 | +Info |
| Charcot-Marie-Tooth disease, types 1D and 4E | Sanger Sequencing of the EGR2 gene | 28 days | LV0205 | +Info |
| Epilepsy, progressive myoclonic 2A (Lafora) | Sanger Sequencing of the EPM2A gene | 49 days | LV2318 | +Info |
| Axenfeld-Rieger Syndrome | Sanger Sequencing of the FOXC1 gene | 35 days | LV1697 | +Info |
| Neuroferritinopathy | Sanger sequencing of the FTL gene | 42 days | LV0573 | +Info |
| Neural tube defects | Sanger Sequencing of the FUZ gene | 42 days | LV3065 | +Info |
| Friedreich Ataxia | Sanger Sequencing of the FXN gene | 42 days | LV0428 | +Info |
| 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 |
| Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | Sanger Sequencing of the GCH1 gene | 35 days | LV2290 | +Info |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis | Sanger Sequencing of the GDAP1 gene | 28 days | LV0202 | +Info |
| Charcot-Marie-Tooth disease, recessive intermediate, A | Sanger Sequencing of the GDAP1 gene | 28 days | LV0202 | +Info |
| Charcot-Marie-Tooth disease, type 4A | Sanger Sequencing of the GDAP1 gene | 28 days | LV0202 | +Info |
| Charcot-Marie-Tooth Neuropathy Type 2K | Sanger Sequencing of the GDAP1 gene | 28 days | LV0202 | +Info |
| Charcot-Marie-Tooth disease, X-linked type | Sanger sequencing of the GJB1 (Conexin 32) gene including promoter and UTR regions | 53 days | LV3760 | +Info |
| Frontotemporal dementia with lobar degeneration | Sanger Sequencing of the GRN gene | 42 days | LV0827 | +Info |
| Glycogen storage disease XV | Sanger sequencing of the GYG1 gene | 84 days | LV3280 | +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 |
| Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, type 2 | Sanger sequencing of the HTRA1 gene | 53 days | LV3775 | +Info |
| Glioma, susceptibility to, somatic | Sanger sequencing of the IDH1 gene | 32 days | LV3563 | +Info |
| Astrocytoma, Oligoastrocytoma, Oligodendroglioma | Sanger sequencing of the IDH2 gene | 32 days | LV3564 | +Info |
| Isovaleric acidemia | Sanger sequencing of the IVD gene | 35 days | LV3822 | +Info |
| Spastic paraplegia 10, autosomal dominant | Sanger sequencing of the KIF5A gene | 60 days | LV3199 | +Info |
| Acrocallosal Syndrome | Sanger Sequencing of the KIF7 gene | 49 days | LV2114 | +Info |
| Multiple Cavernomatosis | Sanger sequencing of the KRIT1 gene | 42 days | LV0759 | +Info |
| Epilepsy Lateral Temporal Lobe, Autosomal Dominant | Sanger Sequencing of the LGI1 gene | Consult | LV1282 | +Info |
| Charcot-Marie-Tooth Neuropathy Type 1C | Sanger Sequencing of the LITAF gene | Consult | LV1147 | +Info |
| Charcot-Marie-Tooth disease, type 2B1 | Sanger Sequencing of the LMNA gene | 56 days | LV0532 | +Info |
| Frontotemporal dementia with parkinsonism | Sanger Sequencing of the MAPT gene | 49 days | LV2580 | +Info |
| Charcot-Marie-Tooth disease, type 1B | Sanger Sequencing of the MPZ gene | 28 days | LV0203 | +Info |
| Dejerine-Sottas syndrome | Sanger Sequencing of the MPZ gene | 28 days | LV0203 | +Info |
| X-Linked Myotubular Myopathy | Sanger Sequencing of the MTM1 gene | Consult | LV1202 | +Info |
| Centronuclear myopathy, autosomal, modifier of | Sanger sequencing of the MTMR14 gene | 56 days | LV3389 | +Info |
| Charcot-Marie-Tooth Disease, Type 4B1 | Sanger sequencing of the MTMR2 gene | 56 days | LV0568 | +Info |
| 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 |
| Parkinson Disease 2 | Sanger Sequencing of the PARK2 gene | 42 days | LV0778 | +Info |
| Parkinson Disease 7 | Sanger sequencing of the PARK7 gene | 53 days | LV0779 | +Info |
| 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 |
| Glycogen storage disease X | Sanger Sequencing of the PGAM2 gene | Consult | LV2288 | +Info |
| Cowden syndrome | Sanger sequencing of the PIK3CA gene | 49 days | LV3284 | +Info |
| Parkinson disease 6, early onset | Sanger sequencing of the PINK1 gene | 42 days | LV3540 | +Info |
| 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 |
| Parkinson disease 14 | Sanger Sequencing of the PLA2G6 gene | 35 days | LV2586 | +Info |
| Charcot-Marie-Tooth disease, type 1A | Sanger Sequencing of the PMP22 gene | 28 days | LV0201 | +Info |
| Dejerine-Sottas syndrome | Sanger Sequencing of the PMP22 gene | 28 days | LV0201 | +Info |
| Neuropathy, Hereditary, with liability to Pressure Palsies (HNPP) | Sanger Sequencing of the PMP22 gene | 28 days | LV0201 | +Info |
| Muscular dystrophy, limb-girdle, type 2Z | Sanger sequencing of the POGLUT1 gene | 56 days | LV3818 | +Info |
| Epilepsy, progressive myoclonic, 10 | Sanger sequencing of the PRDM8 gene | 42 days | LV3532 | +Info |
| Acrodysostosis 1 with or without hormone resistance | Sanger sequencing of the PRKAR1A gene | 35 days | LV3290 | +Info |
| Seizures, benign familial infantile, 3 | Sanger Sequencing of the PRRT2 gene | 35 days | LV2173 | +Info |
| Charcot-Marie-Tooth disease, type 4F | Sanger sequencing of the PRX gene | 28 days | LV0803 | +Info |
| Alzheimer disease, Type 3 | Sanger Sequencing of the PSEN1 gene | 42 days | LV0198 | +Info |
| Frontotemporal Dementia | Sanger Sequencing of the PSEN1 gene | 42 days | LV0198 | +Info |
| Alzheimer disease, Type 4 | Sanger Sequencing of the PSEN2 gene | 42 days | LV0199 | +Info |
| Lenz-Majewski hyperostotic dwarfism | Sanger sequencing of the PTDSS1 gene | 42 days | LV3740 | +Info |
| Cowden syndrome | Sanger sequencing of the PTEN gene | 42 days | LV0804 | +Info |
| Glycogen Storage Disease Type V | Sanger Sequencing of the PYGM gene | 46 days | LV0878 | +Info |
| Polyglucosan body myopathy 1 with or without immunodeficiency | Sanger sequencing of the RBCK1 gene | 53 days | LV3531 | +Info |
| Episodic pain syndrome, familial, 2 | Sanger sequencing of the SCN10A gene | 90 days | LV3211 | +Info |
| Epilepsy, generalized, with febrile seizures plus, type 7 | Sanger Sequencing of the SCN9A gene | 63 days | LV2467 | +Info |
| Insensitivity to pain, channelopathy-associated | Sanger Sequencing of the SCN9A gene | 63 days | LV2467 | +Info |
| Paroxysmal extreme pain disorder | Sanger Sequencing of the SCN9A gene | 63 days | LV2467 | +Info |
| Small fiber neuropathy | Sanger Sequencing of the SCN9A gene | 63 days | LV2467 | +Info |
| 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 |
| Charcot-Marie-Tooth disease, type 4C | Sanger Sequencing of the SH3TC2 gene | 42 days | LV2570 | +Info |
| Mononeuropathy of the median nerve, mild | Sanger Sequencing of the SH3TC2 gene | 42 days | LV2570 | +Info |
| 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 |
| 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 |
| Spinal Muscular Atrophy, proximal (SMA) | Sanger sequencing of the SMN1 gene | 42 days | LV0771 | +Info |
| Spinal muscular atrophy-2 | Sanger sequencing of the SMN1 gene | 42 days | LV0771 | +Info |
| Dementia, Lewy body | Sanger Sequencing of the SNCA gene | Consult | LV3096 | +Info |
| Parkinson disease 1 | Sanger Sequencing of the SNCA gene | Consult | LV3096 | +Info |
| Parkinson disease 4 | Sanger Sequencing of the SNCA gene | Consult | LV3096 | +Info |
| Amyotrophic lateral sclerosis 1 | Sanger Sequencing of the SOD1 gene | 28 days | LV3100 | +Info |
| Muscular dystrophy, limb-girdle, type 2G | Sanger sequencing of the TCAP gene | 35 days | LV4048 | +Info |
| Osteopetrosis, autosomal recessive 1 | Sanger Sequencing of the TCIRG1 gene | 49 days | LV2914 | +Info |
| Torsion dystonia (DYT6) | Sanger Sequencing of the THAP1 gene | 84 days | LV1088 | +Info |
| Welander distal myopathy | Sanger sequencing of the TIA1 gene | 70 days | LV3381 | +Info |
| TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form | Sanger Sequencing of the TK2 gene | 42 days | LV0780 | +Info |
| Congenital Fiber-Type Disproportion | Sanger Sequencing of the TPM3 gene | 28 days | LV2614 | +Info |
| Spinal muscular atrophy, distal, congenital nonprogressive | Sanger Sequencing of the TRPV4 gene | 35 days | LV2072 | +Info |
| Ablepharon-macrostomia syndrome | Sanger sequencing of the TWIST2 gene | 28 days | LV3218 | +Info |
| Neural tube defects | Sanger Sequencing of the VANGL1 gene | 42 days | LV3066 | +Info |
| Neural tube defects | Sanger Sequencing of the VANGL2 gene | 42 days | LV3067 | +Info |
| Spinal Muscular Atrophy Proximal Adult Autosomal Dominant | Sanger sequencing of the VAPB gene | 42 days | LV0786 | +Info |
| Von Hipel Lindau syndrome | Sanger sequencing of the VHL gene | 42 days | LV0420 | +Info |
| Wolfram syndrome | Sanger Sequencing of the WFS1 gene | 42 days | LV2116 | +Info |
| Spinocerebellar ataxia 12 (SCA12) | Sanger sequencing of the WWOX gene | 35 days | LV3734 | +Info |
| Xeroderma Pigmentosum | Sanger Sequencing of the XPA gene | Consult | LV0989 | +Info |
| Xeroderma Pigmentosum | Sanger Sequencing of the XPC gene | 56 days | LV0988 | +Info |
| 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 |
| 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 |
