| Beckwith-Wiedemann syndrome | Beckwith-Wiedemann Síndrome Study by Uniparental Disomy detection of chromosome 11 | 28 days | LV0458 | +Info |
| Spinocerebellar ataxia 6 (SCA6) | CAG Expansion detection in the CACNA1A gene | 28 days | LV0792 | +Info |
| Russell-Silver, Syndrome | Chromosome 7 paternal uniparental disomy by MS-MLPA | 35 days | LV3902 | +Info |
| Inherited dystonias | Detection of deletions and duplications in the ATP1A3, PRKRA, THAP1, TOR1A genes by MLPA | 28 days | LV4112 | +Info |
| Menkes disease | Detection of deletions and duplications in the ATP7A gene by MLPA | 28 days | LV2298 | +Info |
| 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 |
| Episodic ataxia, type 2 | 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 |
| Optic atrophy 1 | Detection of deletions/duplications in the OPA1 gene by MLPA | 28 days | LV4120 | +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 |
| Dejerine-Sottas syndrome | Detection of large deletions and/or duplications in the PRX gene by MLPA | 35 days | LV3900 | +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 |
| Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis | Hexanucleotide expansion detection in a noncoding region of the C9ORF72 gene | 42 days | LV1551 | +Info |
| Pick disease | Large deletions and duplications detectionin the PSEN1, PSEN2 and APP genes by MLPA | 35 days | LV3747 | +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 |
| Prader-Willi syndrome | Methylation study in the PWS/AS genomic region and duplications, by MS-MLPA | 42 days | LV1464 | +Info |
| Amyotrophic lateral sclerosis 4, juvenile | Next Generation Sequencing and Sanger Sequencing of the SETX gene | 42 days | LV1357 | +Info |
| Multiple pterygium syndrome, lethal type and Escobar syndrome | Next Generation Sequencing of 3 gene panel: CHRNA1, CHRND, CHRNG | 42 days | LV1677 | +Info |
| Leukoencephalopathy with vanishing white matter and Ovarioleukodystrophy | Next Generation Sequencing of 5 gene panel: EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5. | 42 days | LV1640 | +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 |
| 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 |
| 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 |
| 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 |
| Neuropathy, congenital hypomyelinating | NGS and bioinformatic CNVs screening, 3-gene panel: CNTNAP1,EGR2,MPZ, | 49 days | LV4265 | +Info |
| Leukodystrophies and Leukoencephalopathies | NGS and bioinformatic CNVs screening, 32-gene panel: AARS2,ABAT,ABCD1,AIMP1,ARSA,CLCN2,CSF1R,DARS,DARS2,EARS2,EIF2B1,EIF2B2,EIF2B3,EIF2B4,EIF2B5,FAM126A,GALC,GJC2,HSPD1,HTRA1,LMNB1,NOTCH3,PLP1,POLR1C,POLR3A,POLR3B,PSAP,SCP2,TREM2,TREX1,TUBB4A,VPS11, | 49 days | LV4242 | +Info |
| 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 |
| Alzheimer disease | NGS and bioinformatic CNVs screening, 5-gene panel: ABCA7,APP,PSEN1,PSEN2,SORL1,, and APOE, | 49 days | LV4253 | +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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Deafness, autosomal recessive 77 | NGS and Sanger Sequencing of the LOXHD1 gene | 42 days | LV1925 | +Info |
| Trismus-pseudocamptodactyly syndrome | NGS and Sanger Sequencing of the MYH8 gene | 42 days | LV1958 | +Info |
| Deafness, autosomal recessive 84 | NGS and Sanger Sequencing of the PTPRQ gene | 42 days | LV2018 | +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 |
| 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 |
| 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 |
| 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 |
| Prader-Willi syndrome | NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRB3, GABRG3, MECP2, MBD5, UBE3A | 42 days | LV3008 | +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 |
| Nijmegen breakage syndrome | Sanger Sequencing of the NBN gene | 35 days | LV2622 | +Info |
| Homocystinuria, B6-responsive and nonresponsive types | Sanger Sequencing of the CBS gene | 35 days | LV2599 | +Info |
| Thrombosis, hyperhomocysteinemic | Sanger Sequencing of the CBS gene | 35 days | LV2599 | +Info |
| Beckwith-Wiedemann syndrome | Sanger Sequencing of the CDKN1C gene | 42 days | LV0457 | +Info |
| Multiple pterygium syndrome, lethal type and Escobar syndrome | Sanger Sequencing of the CHRNG gene | 35 days | LV2631 | +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 |
| MASA syndrome | Sanger Sequencing of the L1CAM gene | 53 days | LV0903 | +Info |
| Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome | Sanger Sequencing of the LIFR gene | 49 days | LV1919 | +Info |
| Dejerine-Sottas syndrome | Sanger Sequencing of the MPZ gene | 28 days | LV0203 | +Info |
| Coenzyme Q10 deficiency, primary, 2 | Sanger sequencing of the PDSS1 gene | 35 days | LV4103 | +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 |
| Dejerine-Sottas syndrome | Sanger Sequencing of the PMP22 gene | 28 days | LV0201 | +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 |
| 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 |
| Craniosynostosis | Sanger Sequencing of the TWIST1 gene | 42 days | LV0734 | +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 |
| 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 |
