Logo-Dreamgenics
Logo-Dreamgenics

Neurology

Genetic studies can help to correctly diagnose patients with hereditary neurological diseases such as movement disorders, neuromuscular disorders, intellectual disability or epilepsy, among others.
Clinical areas
Movement disorders
Dementia
Neuromuscular diseases
Leukodystrophies
Spastic paraparesis
Epilepsy
Autism spectrum disorder
Intellectual disability
Ataxia
Broader studies
DG Exome®
DG Clinical Exome®
Documentation
Application form
Accepted samples
  • EDTA blood (1x 5 ml)
  • Saliva (specific Isohelix kit)
  • Buccal exudate (2x sterile isopes)
  • gDNA (>30 ng/μl in >100 μl TE buffer)

Remember to label each sample with the patient's first and last name or with the identifier used on the request form.

Movement disorders

The term 'movement disorders' refers to a group of nervous system conditions that cause an increase in abnormal movements, which may be voluntary or involuntary. Movement disorders can also cause slow or reduced movements. We offer the study of the main movement disorders such as dystonia and Parkinson's disease.

Studies included
Parkinson's disease
ATP13A2, CHCHD2, DNAJC6, FBXO7, GBA1, LRRK2, MAPT, PARK7, PINK1, PLA2G6, PRKN, SNCA, SYNJ1, VPS13C, VPS35.
GBA1, LRRK2, MAPT, PRKN, SNCA, VPS35.
CHCHD2, DNAJC6, LRRK2, PARK7, PINK1, PRKN, SNCA, SYNJ1, VPS13C.
Parkinsonian disorders

ATP13A2, ATP6AP2, COQ2, DCTN1, FBXO7, GCH1, GRN, LRRK2, LYST, MAPT, OPA1, OPA3, PLA2G6, PTRHD1, RAB39B, SNCA, SPG11, SYNJ1, TWNK, UQCRC1, VPS13A, VPS13C, ZFYVE26.

Dystonia
ACTB, ADAR, ADCY5, ANO3, APTX, ARSA, ATM, ATN1, ATP13A2, ATP1A3, ATP7B, BCAP31, BTD, C19ORF12, CACNA1A, CACNA1B, CBS, CIZ1, CLN3, CLN5, CLN6, CLN8, COASY, COL6A3, COX20, CP, CSTB, CTSD, CTSF, D2HGDH, DCAF17, DLAT, DNAJC12, DNAJC5, ECHS1, EIF2AK2, FA2H, FBXO7, FOXG1, FTL, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GCH1, GLB1, GM2A, GNAL, GNAO1, GNB1, GRN, HPCA, HPRT1, HTRA2, KCNMA1, KCTD17, KCTD7, KMT2B, MCEE, MECP2, MECR, MFSD8, MMAA, MMAB, MMADHC, MMUT, NKX6-2, NPC1, NPC2, NUP54, PAH, PANK2, PDE10A, PDGFB, PDGFRB, PINK1, PLA2G6, PLP1, PNKD, POLG, PPT1, PRKN, PRKRA, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SGCE, SHQ1, SLC18A2, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC39A14, SLC6A19, SLC6A3, SLC6A8, SPR, SUCLA2, SYNJ1, TAF1, TH, THAP1, TIMM8A, TMEM151A, TOR1A, TPP1, TREX1, TSPOAP1, TUBB4A, VPS13A, VPS16, WARS2, WDR45, WDR73, XK, XPR1, YY1.
ANO3, COL6A3, GNAL, HPCA, KMT2B, PDE10A, THAP1, TOR1A, TUBB4A.
ATP1A3, FBOX7, GCH1, PINK1, PRKRA, SLC18A2, SLC30A10, SLC6A3, SPR, SYNJ1, TAF1, TH, TUBB4A, WARS2.
KCTD17, SGCE.
ECHS1, KCNMA1, PNKD, PRRT2, SLC2A1.
ADAR, ARSA, ATN1, ATP13A2, ATP7B, BTD, C19ORF12, CBS, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, D2HGDH, DCAF17, DNAJC5, FA2H, FOXG1, FTL, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GLB1, GM2A, GNB1, GRN, HPRT1, KCTD7, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, PANK2, PDGFB, PDGFRB, PLA2G6, PLP1, POLG, PPT1, PRKN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SLC19A3, SLC20A2, SLC30A10, SLC39A14, SLC6A19, SLC6A8, SUCLA2, TIMM8A, TPP1, TREX1, VPS13A, WDR45, WDR73, XK, XPR1, YY1.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Dementia

Dementia is an umbrella term that describes a wide range of symptoms associated with memory impairement and other thinking skills, leading to a reduction in a person's ability to carry out daily activities. Alzheimer's disease accounts for 60-80% of cases. The study of genes associated with different types of dementia is included.

Studies included
Targeted Exoma
APOE, APP, ARSA, CCNF, CSF1R, CHCHD10, CHMP2B, CTSF, CYLD, CYP27A1, DCTN1, DNAJC5, FUS, GRN, HNRNPA1, HNRNPA2B1, ITM2B, MAPT, PSEN1, PSEN2, SNCA, SNCB, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, TUBA4A, UBQLN2, VCP.
APP, APOE (e4 allele), C9orf72, GRN, MAPT, PSEN1, PSEN2, TREM2.
GRN, MAPT, PSEN1, PSEN2, TREM2.
CCNF, CHCHD10, CHMP2B, CYLD, DCTN1, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, OPTN, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, TUBA4A, UBQLN2, VCP.
CCNF, CHCHD10, CHMP2B, CYLD, FUS, SQSTM1, TARDBP, TBK1, VCP.
C9orf72.
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Neuromuscular diseases

Neuromuscular diseases are a group of more than 150 progressive and chronic neurological conditions, mostly of genetic origin, which cause loss of muscle strength and associated muscle and nerve degeneration. Through the different panels we address the study of various neuromuscular diseases such as neuropathies, myopathies and muscular dystrophies, diseases with motor neuron involvement and myasthenic syndromes as well as other syndromes with hypotonia, myotonia and/or weakness.

Studies included
Motor neurone disease
AGTPBP1, ALS2, ANG, ANXA11, ATXN2, AR, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, CCNF,CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, DES, DNAJB2, DYNC1H1, EPHA4, ERBB4, ERLIN2, EXOSC3, EXOSC8, EXOSC9, FBXO38, FIG4, FUS, GARS1, GLE1, GLT8D1, GRN, HNRNPA1, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, LRP12, MATR3, MOBP, MYH14, NAIP, NEFH, NEK1, OPTN, PFN1, PLEKHG5, PON1, PON2, PON3, PPARGC1A, PRPH, REEP1, SCFD1, SETX, SIGMAR1, SLC12A6, SLC25A46, SLC52A1, SLC52A2, SLC52A3, SLC5A7, SMN1, SMN2, SOD1, SPG11, SPAST, SPTLC1, SQSTM1, TAF15, TARDBP, TBCE, TBK1, TIA1, TREM2, TRIP4, TRPV4, TSEN15, TSEN2, TSEN34, TSEN54, TUBA4A, UBA1, UBQLN2, UNC13A, VAPB, VCP, VRK1, VWA1.
ALS2, ANG, ANXA11, CCNF, CHCHD10, CHMP2B, DAO, DCTN1, ERBB4, FIG4, FUS, GLE1, GLT8D1, GRN, HNRNPA1, KIF5A, LRP12, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SIGMAR1, SLC52A1, SLC52A2, SLC52A3, SOD1, SPG11, SPAST, SPTLC1, SQSTM1, TAF15, TARDBP, TBK1, TIA1, TUBA4A, UBQLN2, VAPB, VCP.
SMN1, SMN2.
CCNF, CHCHD10, CHMP2B, CYLD, FUS, SQSTM1, TARDBP, TBK1, VCP.
C9orf72.
Neuropathies
AARS1, ABCA1, ABCD1, ABHD12, AGTPBP1, AGXT, AIFM1, AP1S1, APOA1, APTX, AR, ARHGEF10, ARSA, ATL1, ATL3, ATM, ATP1A1, ATP7A, ATXN1, ATXN10, ATXN2, ATXN3, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CADM3, CCT5, CD59, CFAP276, CHCHD10, CLCF1, CNTNAP1, COA7, COQ7, COX10, COX6A1, CPOX, CRLF1, CTDP1, CYP27A1, DARS2, DCTN1, DCTN2, DCAF8, DEGS1, DHTKD1, DMXL2, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, EMILIN1, ERCC6, ERCC8, ETFDH, FAH, FBLN5, FBXO38, FGD4, FIG4, FLVCR1, FMR1, FXN, GALC, GAN, GARS1, GBA2, GDAP1, GJB1, GJB3, GJC2, GLA, GNB4, HADHA, HADHB, HARS1, HINT1, HK1, HMBS, HOXD10, HSPB1, HSPB3, HSPB8, HYCC1, IARS2, IGHMBP2, INF2, ITPR3, JAG1, JPH1, KARS1, KCNA2, KIF1A, KIF1B, KIF5A, KLC2, LITAF, LMNA, LRP12, LRSAM1, LYST, MARS1, MCM3AP, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, MTTP, MYH14, NAGA, NAGLU, NDC1, NDRG1, NEFH, NEFL, NGF, NOD2, NTRK1, OPA3, PDHA1, PDK3, PDYN, PEX10, PEX7, PHYH, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, POLG, POLR3A, PPOX, PRDM12, PRKCG, PRNP, PRPS1, PRX, PTEN, PTPN11, PTRH2, RAB7A, REEP1, RETREG1, RTN2, SACS, SARS1, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN9A, SCO2, SCYL1, SEPTIN9, SETX, SH3TC2, SIGMAR1, SGPL1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SORD, SOX10, SPART, SPAST, SPTAN1, SPG11, SPG7, SPTBN4, SPTLC1, SPTLC2, SUCLA2, SURF1, SYT2, TFG, TRIM2, TRPA1, TRPV4, TTPA, TTR, TUBB3, TYMP, TWNK, UBA1, VAPB, VCP, VPS13A, VRK1, VWA1, WARS1, WNK1, XK, XPA, XRCC1, YARS1, ZFYVE26.
AARS1, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CADM3, CNTNAP1, COA7, COX6A1, CTDP1, DCTN1, DCTN2, DCAF8, DGAT2, DHTKD1, DMXL2, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FBLN5, FBXO38, FGD4, FIG4, FXN, GAN, GARS1, GDAP1, GJB1, GJB3, GNB4, HADHB, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, ITPR3, JAG1, JPH1, KARS1, KIF1B, KIF5A, KLC2, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, NAGLU, NDRG1, NEFH, NEFL, PDK3, PLEKHG5, PMP2, PMP22, PNKP, PRPS1, PRX, PTRH2, RAB7A, SARS1, SBF1, SBF2, SCO2, SCYL1, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SORD, SPG11, SPTLC1, SURF1, TFG, TRIM2, TRPV4, VCP, VRK1, VWA1, WARS1, YARS1.
AARS, AGTPBP1, ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, COQ7, DCTN1, DNAJB2, DYNC1H1, EMILIN1, FBXO38, GARS, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, LRP12, MFN2, MORC2, PLEKHG5, REEP1, RTN2, SPTAN1, SETX, SIGMAR1, SLC52A2, SLC52A3, SLC5A7, SORD, SPTAN1, SYT2, TFG, TRIP4, TRPV4, UBA1, VAPB, VRK1, VWA1, WARS.
ATL1, ATL3, CCT5, DNMT1, DST, ELP1, HK1, KIF1A, NGF, NTRK1, PRDM12, RETREG1, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK1.
Congenital Myasthenia
AGRN, ALG14, ALG2, CACNA1A, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CIAO1, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, RAPSN, RPH3A, RYR1, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT15, SYT2, TOR1AIP1, UNC13A, VAMP1.
Myopathies
AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, ACTN2, ADSS1, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, ANO5, ASCC1, ASCC3, B3GALNT2, B4GAT1, BAG3, BCS1L, BET1, BIN1, BVES, C1QBP, CACNA1S, CAPN3, CASQ1, CAVIN1, CCDC174, CCDC78, CFL2, CHCHD10, CHKB, CIAO1, CNBP, CNTN1, COL12A1, COL13A1, COL25A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COQ2, COQ8A, COQ9, COX10, COX15, COX6A2, CPT2, CRPPA, CRYAB, DAG1, DES, DGUOK, DMD, DMPK, DNA2, DNAJB4, DNAJB6, DNM2, DNMT3B, DOK7, DOLK, DPM1, DPM2, DPM3, DTNA, DUX4, DYSF, EARS2, ECEL1, ECHS1, EMD, ENO3, EPG5, ETFA, ETFB, ETFDH, ETHE1, FARS2, FBXL4, FDX2, FHL1, FKRP, FKTN, FLAD1, FLNC, FOXRED1, FRG1, FXR1, GAA, GBE1, GFER, GGPS1, GIPC1, GMPPB, GNE, GOLGA2, GOSR2, GYG1, GYS1, HACD1, HADHA, HADHB, HMGCR, HNRNPA2B1, HNRNPA2B1, HNRNPDL, HSPB1, HSPB8, HSPG2, IARS2, INPP5K, ISCU, ITGA7, JAG2, KBTBD13, KIF21A, KLHL24, KLHL40, KLHL41, KLHL9, LAMA2, LARGE1, LDB3, LDHA, LETM1, LIG3, LIMS2, LMNA, LMOD3, LPIN1, LRIF1, LRPPRC, LTBP4, MAMLD1, MAP3K20, MATR3, MGME1, MICU1, MSTO1, MTM1, MTMR14, MYBPC1, MYF6, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYOD1, MYOT, MYPN, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NEFL, NOTCH2NLC, NUBPL, OPA1, ORAI1, PABPN1, PAX7, PDHA1, PDHB, PDHX, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHOX2A, PIEZO2, PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PUS1, PYGM, PYROXD1, RBCK1, RNASEH1, RRM2B, RXYLT1, RYR1, RYR3, SDHA, SDHAF1, SDHB, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC16A1, SLC19A3, SLC22A5,SLC25A20, SLC25A32, SLC25A4, SMCHD1, SMPX, SNUPN, SPEG, SQSTM1, STAC3, STIM1, SYNE1, SYNE2, TCAP, TIA1, TIMMDC1, TK2, TMEM126B, TMEM43, TMEM65,TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TSFM, TTN, TUBB2B, TUBB3, TWNK, TYMP, UNC45B, VCP, VMA21, WWTR1, YARS2, ZC4H2.
Muscular dystrophies
ACTA1, ANO5, B3GALNT2, B4GAT1, BET1 BVES, CAPN3, CAVIN1 CHKB, CIAO1, CNBP, COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DNAJB6, DNMT3B, DOLK, DPM1, DPM2, DPM3, DTNA, DUX4, DYSF, EMD, FHL1, FKRP, FKTN, GGPS1, GMPPB, GOLGA2, GOSR2, HNRNPA2B1, HNRNPDL, INPP5K, ITGA7, JAG2, LAMA2, LARGE1, LIMS2, LMNA, MICU1, MSTO1, MYH7, MYMK, MYOT, NOTCH2NLC, PABPN1, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PYROXD1, RXYLT1, RYR1, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SMCHD1, SYNE1, SYNE2, TCAP, TMEM5, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TRIP4, TTN, TUBB3, VMA21.
DNMT3B, DUX4, FHL1, FRG1, MYH7, SMCHD1.

DMD.

DMD.

ANO5, BVES, CAPN3, CRPPA, DAG1, DES, DNAJB6, DPM3, DYSF, FKRP, FKTN, GMPPB, GNE, HMGCR, HNRNPDL, JAG2, LAMA2, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, SGCA, SGCB, SGCD, SGCG, SNUPN, TCAP, TNPO3, TRAPPC11, TRIM32, TTN.
PABPN1.
EMD, FHL1, LMNA, SYNE1, SYNE2, TMEM43, TTN.
CNBP, DMPK.
ACTA1, ADSS1, ANO5, BAG3, CAV3, CNBP, CRYAB, DES, DMD, DMPK, DNAJB6, DNM2, DUX4, DYSF, EMD, FHL1, FLNC, GIPC1, GNE, HSPB1, HSPB8, KLHL9, LDB3, LMNA, LRIF1, MATR3, MYH7, MYOT, NEB, SELENON, SMPX, SQSTM1, TCAP, TIA1, TRPV4, TTN, VCP.
Congenital myopathies
ACTA1, ACTN2, ADSS1, ASCC1, ASCC3, BIN1, CACNA1S, CASQ1, CCDC174, CCDC78, CFL2, CNTN1, COL12A1, COL13A1, COL25A1, COL6A1, COL6A2, COL6A3, DNAJB4, DNM2,DOK7, ECEL1, EPG5, FHL1, HACD1, ITGA7, KLHL40, KLHL41, LETM1, LMNA LMOD3, MAMLD1, MAP3K20, MEGF10, MTM1, MTMR14, MYBPC1, MYF6, MYH2, MYH3, MYH7, MYL1, MYL2, MYO18B, MYPN, MYOD1, NEB, ORAI1, PAX7, PIEZO2, RYR1, RYR3, SELENON, SLC25A4, SPEG, STAC3, STIM1, TNNC2, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TTN, UNC45B, VMA21, ZC4H2.
ACTA1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, MYPN, NEB, NEFL, RYR3, TNNT1, TPM2, TPM3.
ACTA1, ACTN2, FXR1, RYR1.
AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, BCS1L, C1QBP, CACNA1S, CASQ1, CAVIN1, CHCHD10, CHKB, COQ2, COQ8A, COQ9, COX10 COX15, COX6A2, CPT2, DGUOK, DNA2, EARS2, ECHS1, ENO3, ETFA, ETFB, ETFDH, ETHE1, FARS2, FBXL4, FDX2, FLAD1, FOXRED1, GAA, GBE1, GFER, GYG1, GYS1, HADHA, HADHB, IARS2, ISCU, KLHL24, LAMP2, LDHA, LIG3, LPIN1, LRPPRC, MGME1, MICU1, MSTO1, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL,OPA1, PDHA1, PDHB, PDHX, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PNPLA2, PNPLA8, POLG, POLG2, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, RYR1, SDHA, SDHAF1, SDHB, SDHD, SLC16A1, SLC19A3, SLC22A5, SLC25A20, SLC25A32, TIMMDC1, TK2, TMEM126B, TMEM65, TSFM, TWNK, TYMP, WWTR1, YARS2.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Leukodystrophies

Studies included

The leukodystrophies represent a heterogeneous group of hereditary degenerative diseases of cerebral myelin that produce extensive white matter involvement. The clinical manifestations are very varied, which makes diagnosis difficult.

AARS1, AARS2, ABCD1, ACBD5, ACER3, ADAR, ACOX1, AIFM1, AIMP1, ALDH3A2, APP, ARSA, ASPA, ATPAF2, AUH, BCAP31, CLCN2, CLDN11, COA8, COQ2, COQ8A, COL4A1, COL4A2, COX10, CSF1R, CST3, CTC1, CTSA, CYP27A1, DARS1, DARS2, DEGS1, DGUOK, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPRS1, ERCC2, ERCC3, ERCC6, ERCC8, FA2H, FOLR1, FUCA1, GALT, GALC, GBE1, GCDH, GFAP, GFM1, GJA1, GJB1, GJC2, HEPACAM, HEXA, HIKESHI, HMGCL, HSD17B4, HSPD1, HTRA1, HYCC1, ISCA2, ITM2B, KIF5A, L2HGDH, LAMB1, LARS2, LIG3, LMNB1, MAL, MARS1, MCOLN1, MLC1, MRPS16, MTHFR, NADK2, NDUFA2, NDUFS7, NDUFV1, NKX6-2, NOTCH3, NPC1, PAH, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLEKHG2, PLP1, POLR1A, POLR1C, POLR3A, POLR3B, POLR3K, PRNP, PSAP, PSEN1, PYCR2, RARS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF216, RNF220, RPIA, SAMHD1, SLC16A2, SLC35B2, SNORD118, SPG11, SPG21, SCP2, SLC7A2, SOX10, SUMF1, TMEM163, TMEM106B, TMEM63A, TPP2, TREM2, TREX1, TTR, TUBB4A, TWNK, TYMP, TYROBP, UFM1, VPS11, ZFYVE26.
AARS2, ABCD1, ACBD5, ACER3, ADAR, ACOX1, AIFM1, AIMP1, AIMP2, ALDH3A2, ARSA, ASPA, ATPAF2, BCAP31, CLDN11, CNP, COA8, COQ2, COQ9, COX10, CYP27A1, DARS1, DEGS1, DGUOK, EARS2, EIF2B1, EIF2B2, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPRS1, ERCC2, ERCC3, ERCC6, ERCC8, FOLR1, FUCA1, GALT, GBE1, GFAP, GFM1, GJA1, GJC2, HIKESHI, HSD17B4, HSPD1, HYCC1, ISCA2, LARS2, LMNB1, MLC1, MPLKIP, MRPS16, NADK2, NDUFS7, NKX6-2, PEX1, PEX10, PEX12, PEX13, PEX5, PLEKHG2, PLP1, POLR1A, POLR1C, POLR3A, POLR3B, POLR3K, PSAP, PYCR2, RARS1, RNASEH2A, RNASEH2C, RNF113A, RNF220, SAMHD1, SLC16A2, SLC35B2, SOX10, SUMF1, TMEM163, TMEM106B, TMEM63A, TREX1, TUBB4A, TWNK, UFM1, VPS11.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Spastic paraparesis

Hereditary spastic paraparesis (HSP) comprises a genetically and clinically heterogeneous group of neurodegenerative disorders whose predominant signs and symptoms are weakness and spasticity of the lower extremities. We offer different approaches for the study of various types of spastic paraparesis, as well as a general panel including 100 genes associated with the pathology.

Studies included
ABCD1, ABHD16A, ADAR, AFG3L2, AIMP1, ALDH18A1, ALDH3A2, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARG1, ARSI, ATAD3A, ATL1, ATP13A2, ATP2B4, B4GALNT1, BICD2, BSCL2, C19orf12, CAPN1, CCT5, CPT1C, CYP27A1, CYP2U1, CYP7B1, DARS2, DDHD1, DDHD2, DNM2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FARS2, FLRT1, GAD1, GBA2, GJC2, GLRX5, GPT2, GRID2, HACE1, HSPD1, IBA57, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KLC4, KY, L1CAM, MAG, MARS1, MARS2, NIPA1, NKX6-2, NT5C2, OPA3, PCYT2, PGAP1, PLP1, PNPLA6, RAB3GAP2, REEP1, REEP2, RNASEH2B, RTN2, SACS, SERAC1, SELENOI, SLC16A2, SLC1A4, SLC25A46, SLC2A1, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG7, TECPR2, TFG, TUBB4A, UBAP1, USP8, VPS37A, WASHC5, WDR48, ZFR, ZFYVE26, ZFYVE27.
ALDH18A1, ATAD3A, BICD2, BSCL2, DNM2, FAR1, KIF5A, KIDINS220, SPG7, TUBB4A.
ADAR, ATL1, CPT1C, KIF1A, ERLIN2,HSPD1, NIPA1, PMCA4, REEP1, REEP2, RTN2, SLC33A1, SPAST, SPG7, UBAP1, WASHC5, ZFYVE27.
ABHD16A, AFG3L2, ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, ARL6IP1, ATP13A2, B4GALNT1, BICD2, C19orf12, CAPN1, CCT5, CYP2U1, CYP27A1, CYP7B1, DARS2, DDHD2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FLRT1, GAD1, GBA2, GJC2, GPT2, GRID2, HACE1, IBA57, KIF1A, KIF1C, KLC2,KLC4, KY, MAG, MARS1, MTRFR, OPA3, NT5C2, PCYT2, PGAP1, PNPLA6, RAB3GAP2, SELENOI, SPART, SPG7, SPG11, SPG21, TECPR2, TFG, VPS37A, WDR48, ZFYVE26.
ALS2, ATL1, AP5Z1, CYP7B1, DDHD1, ERLIN2, REEP2, SPG7, SPG11, SPG24, USP8, ZFR.
L1CAM, PLP1, SLC16A2.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Epilepsy

Epilepsy is a disorder of the central nervous system in which normal brain activity is disturbed, causing seizures or periods of unusual behaviour and sensations, and even loss of consciousness. The underlying causes are multiple and heterogeneous. Through different studies we analyse various epilepsy phenotypes. We also include a specific panel for the study of epileptic syndromes of neonatal and infantile onset, as well as a general panel for more complex cases.

Studies included
AARS1, ABAT, ACOX1, ACTL6B, ADAR, ADAM22, ADGRG1, ADGRV1, ADRA2B, AFG3L2, AKT1, AKT3, ALDH7A1, ALG13, AMT, AP2M1, AP3B2, ARFGEF2, ARHGEF9, ARV1, ARX, ASAH1, ATP1A2, ATP1A3, ATP13A2, ATP6V0A1, ATP6V1A, BCL11A, BRAT1, BRD7, BTD, C3ORF33, CACNA1A, CACNA1B, CACNA1H, CACNB4, CACNA1E, CACNA2D1, CAD, CASK, CASR, CCM2, CDKL5, CDK19, CELF2, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CILK1, CLCN2, CLN3, CLN5, CLN6, CLN8, CLTC, CNPY3, CNKSR2, CNTNAP2, COL4A1, COL4A2, CPA6, CPLX1, CSTB, CTNND2, CTSD, CYFIP2, DALRD3, DCX, DENND5A, DEPDC5, DHDDS, DMXL2, DNAJC5, DNM1, DOCK7, DYNC1H1, EFHC1, EEF1A2, EPM2A, FANCL, FBXO28, FGF12, FGF13, FKRP, FKTN, FLNA, FOLR1, FOXG1, FRRS1L, FZR1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GAL, GBA, GCSH, GLI3, GLS, GNAQ, GNAO1, GOSR2, GOT2, GPHN, GRIK1, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GUF1, HCN1, HCN4, HEATR3, HID1, HNRNPU, IFIH1, IQSEC2, ITPA, JRK, KCNA1, KCNA2, KCNAB1, KCNB1, KCNC1, KCNH5, KCNMA1, KCNN2, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD3, LARGE1, LGI1, LMNB2, MAPK10, MAST3, MECP2, MDH1, MDH2, MFSD8, MLC1, MTOR, NAPB, NECAP1, NUS1, NEUROD2, NEXMIF, NHLRC1, NPRL2, NPRL3, NSF, NTRK2, PAFAH1B1, PACS2, PARS2, PCDH19, PCDH7, PDCD10, PHACTR1, PIK3CA, PIK3R2, PIGA, PIGP, PIGQ, PLCB1, PNKP, PNPO, POMT1, POMT2, POLG, PPT1, PPP3CA, PRDM8, PRICKLE1, PRICKLE2, PRRT2, RAPGEF2, RELN, RHOBTB2, RNASEH2A, RNASEH2B, RNASEH2C, RNF13, RORB, SAMD12, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SEMA6B, SERPINI1, SIK1, STX1B, SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A12, SLC25A22, SLC33A1, SLC6A1, SLC7A6OS, SNX27, SPTAN1, STARD7, STAT4, ST3GAL3, STXBP1, SURF1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TNRC6A, TPK1, TPP1, TPP1, TRAK1, TREX1, TRIM8, TSC1, TSC2, TTC21B, TUBA1A, WDR45, WDR62, UBA5, WWOX, YEATS2, YWHAG, ZEB2.
AARS1, ACTL6B, ADAM22, ADAR, ADGRV1, ALG13, AMT, AP2M1, AP3B2, ARHGEF19, ARV1, ARX, ATP1A2, ATP1A3, ATP6V0A1, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CACNA1H, CACNA1E, CACNA2D1, CACNB4, CASK, CAD, CDKL5, CDK19, CELF2, CHD2, CILK1, CLCN2, CLTC, CLPX1, CNPY3, CNKSR2, CPLX1, CUX2, CYFIP2, DALRD3, DENND5A, DEPDC5, DHDDS, DMXL2, DNM1, DOCK7, EFHC1, EEF1A2, FBXO28, FGF12, FGF13,FOXG1, FRRS1L, FZR1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GCSH, GLDC, GLI3, GLS, GLUL, GNAQ, GNAO1, GOT2, GPHN, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, HID1, HNRNPU, IFIH1, IQSEC2, ITPA, JRK, KCNA1, KCNA2, KCNB1, KCNH5, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD3, MAPK10, MAST3, MDH1, MDH2, MECP2, NAPB, NECAP1, NUS1, NEUROD2, NEXMIF, NSF, NTRK2, PACS2, PARS2, PCDH19, PHACTR1, PIGA, PIGP, PIGQ, PLCB1, PNKP, PNPO, PPP3CA, PRRT2, RHOBTB2, RNF13, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A12, SLC25A22, SLC32A1, SLC35A2, SLC6A1, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, WDR45, UBA5, WWOX, YWHAG.
AARS1, ACTL6B, ADAM22, ALG13, AP3B2, ARHGEF9, ARV1, ARX, ATP1A2, ATP1A3, ATP6V0A1, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CACNA1E, CACNA1I, CACNA2D1, CAD, CASK, CDK19, CDKL5, CELF2, CHD2, CLTC, CNKSR2, CNPY3, CPLX1, CUX2, CYFIP2, DALRD3, DENND5A, DEPDC5, DHDDS, DMXL2, DNM1, DOCK7, EEF1A2, FBXO28, FGF12, FGF13, FRRS1L, FZR1, GABBR2, GABRA1, GABRG2, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GAD1, GLUL, GLS, GNAO1, GOT2, GPHN, GRIN1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, HID1, HNRNPU, IFIH1, IQSEC2, ITPA, KCNA1, KCNA2, KCNB1, KCNC2, KCNH5, KCNQ2, KCNT1, KCNT2, KCTD3, MAPK10, MAST3, MDH1, MDH2, NAPB, NECAP1, NEUROD2, NSF, NTRK2, NUS1, PACS2, PARS2, PDCH19, PHACTR1, PIGA, PIGB, PIGP, PIGQ, PIGS, PLAA, PLCB1, PLK1, PLXNA1, PNKP, PPP3CA, PTPN23, RHOBTB2, RNF13, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SLC32A1, SLC35A2, SLC38A3, SMC1A, SNF8, SPATAN1, ST3GAL3, STXBP1, SV2A, SYNGAP1, SYNJ1, SZT2, TBC1D24, TIMM50, TRAK1, TREX1, TRIM8, TSC1, TSC2, UBA5, UFSP2, UGDH, UGP2, WWOX, WDR45, YWHAG.
ADGRV1, CACNA1H, CASR, CACNB4, CLCN2, GABRA1, GABRD, GABRG2, HCN2, HCN4, KCNMA1, RORB, SCN1A, SCN2A, SCN9A, SCN1B, SLC12A5, SLC2A1, STX1B.
ADGRV1, FGF13, GABRD, GABRG2, HCN1, HCN2, SCN1A, SCN1B, SCN2A, SCN9A, SLC32A1, STX1B.
AKT3, BRAT1, CCM2, CHRNA2, CHRNA4, CHRNB2, CNTNAP2, COL4A1, COL4A2, CPA6, DEPDC5, DNM1L, DYNC1H1, GAL, GNAQ, GRIN1, GRIN2A, GRIN2B, KCNT1, KCNQ2, NPRL2, MLC1, MTOR, NPRL3, PDCD10, PIK3CA, PIGA, PLCB1, RELN, SCN3A, SCN1A, SCN2A, SLC12A5, SLC25A22, TBC1D24.
ADRA2B, AFG3L2, AP2M1, ASAH1, ATP13A2, CACNB4, CERS1, CHD2, CILK1, CLCN2, CLN3, CLN5, CLN6, CLN8, CNTN2, CTNND2, CPLX1, CSTB, CTSD, CTSF, DNAJC5, EFHC1, EPM2A, FOLR1, GABRA1, GABRD, GBA, GOSR2, GRN, ICK, JRK, KCNC1, KCTD7, KCNQ3, LMNB2, MARCHF6, MFSD8, NHLRC1, POLG, PPT1, PRDM8, PRICKLE1, PRICKLE2, RAPGEF2, SAMD12, SCARB2, SEMA6B, SERPINI1, SLC2A1, SLC6A1, SLC7A6OS, SNX27, STARD7, SURF1, SYNGAP1, TBC1D24, TNRC6A, TPK1, TPP1, YEATS2.
CACNB4, CILK1, CLCN2, CPLX1, EFHC1, GABRA1, GABRD, JRK, KCNQ3, TBC1D24.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Autism spectrum disorder

Autism Spectrum Disorders (ASD) are defined as a chronic neurological dysfunction that can manifest itself through a series of symptoms related to social interaction, communication and lack of flexibility in reasoning and behavior. The complexity of the clinical manifestations suggests a multicausal etiology with genetic alterations being the main cause. By means of a targeted exome we analyzed 423 genes with a proven association with ASD.

Studies included
ADNP, ACHE, ACTB, ADA, ADCY3, ADSL, AFF2, AGAP2, AHDC1, AHNAK, AKAP9, ALDH5A1, AMPD1, AMT, ANK2, ANK3, ANKRD11, ANKRD17, ANXA1, AP2S1, APBB1, APH1A, ARHGEF9, ARID1B, ARX, ASAP2, ASH1L, ASPM, ASTN2, ASXL3, ATP10A, ATP2B2, ATRX, AUTS2, AVPR1A, BAZ2B, BCKDK, BCL11A, BICRA, BRAF, BRSK2, BTAF1, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1H, CACNA2D3, CACNB2, CAPRIN1, CASK, CASZ1, CC2D1A, CCNG1, CCT4, CDC42BPB, CDH13, CDKL5, CELF4, CEP135, CEP41, CGNL1, CHAMP1, CHD2, CHD3, CHD7, CHD8, CHMP1A, CHRNA7, CIB2, CIC, CLASP1, CNKSR2, CNOT1, CNOT3, CNR1, CNTN4, CNTN5, CNTN6, CNTNAP2, CNTNAP3, CNTNAP4, CORO1A, CPEB4, CREBBP, CSDE1, CTCF, CTNNB1, CTNND2, CTTNBP2, CUL3, CUL7, CUX1, CYFIP1, DAPP1, DCC, DDHD2, DDX3X, DEAF1, DENR, DHCR7, DIP2A, DIP2C, DISC1, DLG2, DLG4, DLGAP1, DLX3, DMPK, DNMT3A, DOCK8, DPP10, DPYSL2, DSCAM, DYNC1H1, DYRK1A, EBF3, EFR3A, EHMT1, EIF3G, ELAVL3, ELP2, ELP4, EMSY, EP300, EP400, ERBIN, ETFB, FBN1, FGFR1, FMR1, FOXG1, FOXP1, FOXP2, FRG1, GABRB2, GABRB3, GABRG3, GALNT10, GALNT8, GFAP, GGNBP2, GIGYF1, GIGYF2, GNAI1, GPC4, GPHN, GRIA1, GRIA2, GRID1, GRIK2, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIP1, HDLBP, HECTD4, HECW2, HIVEP2, HIVEP3, HMGN1, HNRNPD, HNRNPF, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HNRNPUL2, HRAS, ICA1, ILF2, INTS6, IQSEC2, IRF2BPL, ITGB3, JARID2, KANSL1, KAT2B, KAT6A, KATNAL2, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNS3, KDM3B, KDM4C, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0232, KIAA1586, KIF14, KIF1A, KIRREL3, KMT2A, KMT2C, KMT2E, KMT5B, LAMB1, LDB1, LEO1, LMX1B, LRP1, LRRC4C, LZTR1, MACROD2, MAGEL2, MAP1A, MAPT-AS1, MBD5, MBOAT7, MECP2, MED13, MED13L, MEF2C, MEIS2, MET, MFRP, MIR137, MKX, MSL3, MSNP1, MTOR, MYH10, MYH9, MYO5A, MYO9B, MYT1L, NAA15, NACC1, NAV2, NBEA, NCKAP1, NCOA1, NCOR1, NEXMIF, NF1, NFE2L3, NINL, NIPBL, NLGN1, NLGN2, NLGN3, NLGN4X, NR3C2, NR4A2, NRXN1, NRXN2, NRXN3, NRXN1, NRXN3, NSD1, NSD2, NUAK1, NUDCD2, NUP155, OPHN1, OR52M1, OTUD7A, OXTR, P2RX5, P4HA2, PACS1, PAH, PAK2, PARD3B, PAX5, PCCB, PCDH19, PER2, PHB, PHF12, PHF2, PHF21A, PHF3, PHF7, PHIP, PHRF1, PLCB1, PLXNA4, PLXNB1, POGZ, POMGNT1, PON1, PPP1R9B, PPP2R5D, PPP5C, PREX1, PRICKLE1, PRICKLE2, PRKCB, PRKD2, PRKN, PRODH, PRR12, PSMD12, PTCHD1, PTCHD1-AS, PTEN, PTK7, PTPN11, PYHIN1, QRICH1, RAB2A, RAB43, RAI1, RALGAPB, RANBP17, RBFOX1, RBM27, RELN, RERE, RFX3, RIMS1, ROBO2, RORB, SAE1, SATB1, SBF1, SCAF4, SCN1A, SCN2A, SCN8A, SCN9A, SEMA5A, SET, SETBP1, SETD2, SETD5, SHANK1, SHANK2, SHANK3, SHOX, SIN3A, SIN3B, SKI, SLC12A5, SLC35B1, SLC38A10, SLC6A1, SLC6A3, SLC7A3, SLC7A5, SLC9A6, SLITRK5, SMAD4, SMARCA2, SMARCA4, SMARCC2, SNX5, SON, SORCS3, SOX5, SPARCL1, SPAST, SPEN, SPTBN1, SRCAP, SRPRA, SRSF11, ST8SIA2, STXBP1, STXBP5, SUPT16H, SYN1, SYNGAP1, TAF6, TANC2, TAOK1, TAOK2, TBC1D31, TBCK, TBL1XR1, TBR1, TCF20, TCF4, TCF7L2, TEK, TERF2, TET2, TLK2, TM9SF4, TMLHE, TNRC6B, TRAF7, TRAPPC9, TRIM23, TRIO, TRIP12, TRPC6, TRPM1, TSC1, TSC2, TSHZ3, UBE3A, UBE3C, UBN2, UBR1, UBR5, UNC79, UPF3B, USP15, USP45, USP7, USP9X, VEZF1, VIL1, VPS13B, WAC, WDFY3, WDFY4, WWOX, ZBTB20, ZC3H4, ZMIZ1, ZMYM2, ZMYND11, ZMYND8, ZNF292, ZNF462, ZNF804A.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Intellectual disability

Intellectual disability refers to a group of cognitive disorders of heterogeneous and complex cause with a genetic component in most cases. Advances in genetics have increased the diagnostic rate of current studies by up to 30-40% of patients. Our targeted exome analyzes 588 genes associated with intellectual disability.

Studies included
AAAS, AASS, ABAT, ABCB11, ABCD1, ABHD5, ACADS, ACSL4, ADAT3, ADGRG1, ADSL, AGA, AGTR2, AHI1, AIMP1, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, AMT, AP1G1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARMC9, ARSA ARX, ASH1L, ASPA, ASPM, ASXL1, ASXL3, ATP6AP2, ATP7A, ATP8A2, ATRX, AUH, B3GALNT2, B3GLCT, B3GNT2, B4GALT1, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BRAF, BRCA2, BRIP1, BRSK2, BRWD3, BSCL2, BTD, C12orf4, CA2, CA8, CACNA1C, CACNG2, CAMK2A, CAMK2B, CANT1, CBS, CBY1, CC2D1A, CC2D2A, CCBE1, CD96, CDH15, CDK5RAP2, CDKL5, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CHD7, CHKB, CHMP1A, CIC, CLIC2, CLIP1, CLN3, CLCN4, CLN5, CLN6, CLN8, CLTC, CNKSR2, COG1, COG4, COG5, COG6, COG7, COG8, COL2A1, COL4A1, COMP, COQ2, COQ4, COQ6, COQ8A, COQ9, CPLANE1, CPS1, CRADD, CRBN, CRPPA, CSNK2B, CSNK2B, CSPP1, CTCF, CTNNB1, CTSA, CTSD, CUL4B, CUX1, CYB5R3, CYP27A1, DARS2, DCPS, DCX, DDC, DDOST, DDX59, DHCR7, DKC1, DLG3, DLL1, DNAJC19, DOCK8, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPF2, DPYD, DYM, DYNC1H1, DYRK1A, EBP, EDC3, EEF1A2, EIF2S3, EPB41L1, ERCC2, ERCC3, ERCC4, ERCC6, ERCC8, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EZR, FAM126A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCCI, FANCL, FANCM, FBN1, FGD1, FGF14, FGFR1, FGFR2, FGFR3, FH, FKRP, FKTN*, FLNA, FMN2, FOXG1, FOXL2, FRMPD4, FRRS1L, FTCD, FTSJ1, FUCA1, GABRG2, GALC, GALE, GALNS, GALT, GAMT, GAN, GATAD2B, GATM, GBA, GCDH, GCH1, GCSH, GDI1, GFAP, GJB1, GJB6, GJC2, GK, GLB1, GLDC, GLI3, GLYCTK, GM2A, GMPPB, GNAS, GNE, GNPTAB, GNPTG, GNS, GPC3, GPHN, GPI, GRIA3, GRIK2, GRIN1, GRIN2B, GRM7,GSS, GUSB, HCCS, HCFC1, HDAC8, HEXA, HEXB, HGSNAT, HIVEP2, HNMT, HPRT1, HRAS, HSD17B10, HSPD1, HSPG2, HUWE1, HYAL1, HYLS1, IDS, IDUA, IGBP1, IL1RAPL1, INPP5E, INSR, IQSEC2, ITPR1, JAG1, KATNIP, KCNC3, KCNJ10, KCNQ5, KDM5B, KDM5C, KDM6A, KIAA0586, KIF1A, KIF7, KIRREL3, KMT2D, KNL1, KRAS, L1CAM, L2HGDH, LAMA2, LAMP2, LARGE1, LINS1, LMAN2L, LRP5, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MAP2K2, MASP1, MBD5, MBOAT7, MCOLN1, MCPH1, MECP2, MED12, MED23, MED25, METTL23, MFSD8, MGAT2, MID1, MID2, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTR, MVK, MYCN, MYO5A, MYT1L, NAA10, NAGLU, NBN, NBEA, NCDN, NDE1, NDP, NDST1, NECTIN1, NEMF, NEXMIF, NFIX, NGLY1, NHS, NIPBL, NLGN4X, NLRP3, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NRAS, NSD1, NSDHL, NSUN2, NTRK1, OCRL, OFD1, OPA3, OPHN1, OTC, PACS1, PAFAH1B1, PAH, PAK3, PALB2, PAX3, PAX6, PCBD1, PCCA, PCDH19, PDHA1, PDSS1, PDSS2, PEPD, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PGM1, PHC1, PHF6, PHF8, PIBF1, PIGL, PLA2G6, PLP1, PMM2, PNKP, PNP, PNPO, POLR3A, POLR3B, POMGNT1, POMGNT2, POMT1, POMT2, PORCN, PPT1, PPP3CA, PQBP1, PRKAR1A, PRICKLE2, PRPS1, PRSS12, PSAP, PTCH1, PTCHD1, PTEN, PTPN11, PTS, QDPR, RAB11A, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAD51C, RAF1, RARS2, RBM10, RECQL4, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPGRIP1L, RPS6KA3, RSRC1, RXYLT1, SACS, SAMHD1, SAR1B, SARS1, SBDS, SC5D, SCN1A, SCN2A, SCN9A, SEMA3E, SEPSECS, SET, SETBP1, SETD1B, SGSH, SH3PXD2B, SHROOM4, SIL1, SLC12A2, SLC12A6, SLC16A2, SLC17A5, SLC1A3, SLC25A15, SLC25A22, SLC2A1, SLC45A1, SLC9A7, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A19, SLC6A8, SLC7A7, SLC9A6, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMPD1, SMS, SOS1, SOX11, SOX3, SOX4, SPAST, SPG11, SPRED1, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STEEP1, STIL, STXBP1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SYN1, SYNGAP1, SYP, TAT, TAOK1, TBCE, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TECR, TGFBR1, TGFBR2, TIMM8A, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM67, TNIK, TPI1, TPP1, TRAPPC9, TREM2, TREX1, TRIM32, TRPM3, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSPAN7, TTC21B, TTC5, TTC8, TUBA1A, TUBB4A, TUSC3, TWIST1, TYROBP, UBE2A, UBE3A, UBE4A, UBR1, UFSP2, UMPS, UPF3B, UROC1, USP27X, USP9X, VLDLR, VPS13B, VRK1, WASHC4, WDPCP, WDR62, ZC3H14, ZDHHC15, ZDHHC9, ZEB2, ZFYVE26, ZMYND11, ZNF335, ZNF423, ZNF711, ZNF81.
ABCD1, ACSL4, AFF2, AGTR2, AMMECR1, AP1S2, AR, ALG13, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BEX4, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD,ELK1 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, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MAOB, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NEXMIF, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PDHA1, PGK1, PHF6, PHF8, PLP1, PLXNA3, PLXNB3, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RPL10, RPS6KA3, RPS6KA6, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, STEEP1, SYN1, SYP, TIMM8A, TRPC5, TSPAN7, UBE2A, UPF3B, USP27X, USP9X, VCX3A, WDR45, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZIC3, ZMYM3, ZNF41, ZNF630, ZNF674, ZNF711, ZNF81.
FMR1.
15q11.
15q11.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Ataxia

Ataxia is a motor disorder characterized by a decreased ability to coordinate movements, manifesting as tremor of body parts during voluntary movements, difficulty in making precise movements or difficulty in maintaining balance.

Studies included
AAAS, ABCB7, ABHD12, ADGRG1, AFG3L2, AHI1, ALDH5A1, AMPD2, ANGPTL3, ANO10, AP1S2, APOB, APTX, ARL13B, ARSA, ATCAY, ATM, ATP1A3, ATP8A2, CA8, CACNA1A, CACNA1G, CACNA2D2, CACNB4, CAMTA1, CASK, CC2D2A, CCDC88C, CEP290, CHMP290, CHP1A, CHP1, CLCN2, CLN5, CLN6, CLP1, COA7, COG5, COQ2, COQ4, COQ5, COQ8A, COQ9, COX20, CP, CRPPA, CSTB, CWF19L1, CYP27A1, CYP2U1, DAGLA, DARS2, DDHD2, DLAT, DNAJC19, DNAJC5, DNMT1, EEF2, EEF2B1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EPM2A, EXOSC3, FAT2, FGF12, FGF14, FLVCR1, FOLR1, GALC, GBA2, GFAP, GJC2, GPAA1, GRID2, GRM1, GSS, HEXA, HEXB, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1C, L2HGDH, LARGE1, MARS2, MMACHC, MECP2, MRE11, MTPAP, MTTP, MVK, NEU1, NFASC, NHLRC1, NKX6-2, NPC1, NPC2, NOP56, OPA1, OPA3, OPHN1, PAX6, PCNA, PDYN, PEX16, PHYH, PIK3R5, PLA2G6, PLEKHG4, PNKP, PNPLA6, POLG, POLH, POLR3A, POLR3K, POMGNT2, PPP2R2B, PRICKLE1, PRKCG, PRNP, PRRT2, RARS2, RFC1, RNF170, RNF216, RPGRIP1L, RUBCN, SACS, SAR1B, SEPSECS, SETX, SCN2A, SCN8A, SIL1, SLC17A5, SLC1A3, SLC2A1, SLC52A2, SLC9A6, SMPD1, SNX14, SPG7, SPTBN2, SRD5A3, STUB1, SYNE1, SYT14, TBP, TDP1, TGM6, TMEM240, TMEM67, TPP1, TSEN2, TSEN54, TTBK2, TTPA, TUBB4A, TWNK, UCHL1, VAMP1, VLDLR, VPS13A, VPS13D, VRK1, VWA3B, WDR81, WFS1, WWOX, XRCC1, ZNF592.
ATP1A3, CACNA1A, CACNB4, KCNA1, PRRT2, SCN2A, SLC1A3, SLC2A1.
AFG3L2, ANO10, ATP2B3, CACNA1G, COA7, COQ8A, CWF19L1, EEF2, ELOVL4, ELOVL5, FAT2, FGF14, GDAP2, GRID2, GRM1, ITPR1, KCNC3, KCND3, PDYN, PMPCA, PNPLA6, PRDX3, PRKCG, PUM1, SCYL1, SETX, SNX14, SPTBN2, STUB1, SYNE1, TDP1, TGM6, TMEM240, TPP1, TTBK2, TWNK, UBA5, VPS13D, WWOX, XRCC12.
ADCK3, COQ5, SMPD1, SYNE1, NPC1, NPC2.
ATM, APTX, COA7, CYP27A1, SETX, PIK3R5, PNKP.
ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7.

FXN.

ATM.

FMR1.

Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days