Logo-Dreamgenics
Logo-Dreamgenics

Neuropediatrics

The application of genetics to pediatric neurology facilitates the early and accurate diagnosis of hereditary neurological disorders in children, such as epilepsy, neuromuscular diseases, and neurodevelopmental disorders
Clinical areas
Neuromuscular diseases
Leukodystrophy
Hereditary spastic paraparesis
Epilepsy
Neurodevelopmental disorders
Ataxia
CNS malformations
Neurocutaneous syndromes
Documentation
Application form

Neuromuscular diseases I 24 studies

Neuromuscular diseases are a group of more than 150 progressive and chronic neurological conditions, most of which are genetic in origin, that lead to muscle weakness and associated muscle and nerve degeneration. Through various targeted exome sequencing and specific studies, we address the genetic diagnosis of various neuromuscular diseases, including motor neuron diseases, neuropathies, myasthenic syndromes, myopathies, and muscular dystrophies, among others.
AARS1, AARS2, AASS, ABAT, ABCB6, ABCB7, ABCC9, ABCD1, ABHD12, ABHD5, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACSL4, ACTA1, ACTN2, ADCY6, ADGRG6, ADPRS, ADSS1, AFG3L2, AGK, AGL, AGRN, AGTPBP1, AGXT, AIFM1, AK2, AK9, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALG14, ALG2, ALG3, ALPK1, ALS2, AMACR, AMPD1, AMPD3, AMT, ANG, ANO5, ANXA11, AP3B2, APOO, APTX, AR, ARHGEF10, ARL6IP1, ARMS2, ARNT2, ARPP21, ASAH1, ASCC1, ASCC3, ASS1, ATAD3A, ATG7, ATIC, ATL1, ATL3, ATP1A1, ATP2A1, ATP2A2, ATP5F1A, ATP5F1D, ATP5F1E, ATP5MK, ATP7A, ATP7B, ATPAF2, ATXN2, AUH, B3GALNT2, B3GNT2, B4GAT1, BAG3, BAX, BCKDHA, BCKDHB, BCKDK, BCL2, BCS1L, BET1, BICD2, BIN1, BLOC1S1, BOLA3, BORCS8, BSCL2, BTD, BVES, C19orf12, C1QBP, CA5A, CACNA1A, CACNA1H, CACNA1S, CADM3, CAPN1, CAPN3, CARS2, CASP8, CASQ1, CAT, CAV3, CAVIN1, CCDC174, CCDC78, CCNF, CCT5, CFAP276, CFAP410, CFL2, CHAT, CHCHD10, CHD8, CHKB, CHMP2B, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CIAO1, CISD2, CLCN1, CLN3, CLPB, CLPP, CNTN1, CNTNAP1, COA3, COA5, COA6, COA7, COA8, COASY, COL12A1, COL13A1, COL25A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10 , COX14, COX15, COX16, COX18, COX20, COX4I2, COX6A1, COX6A2, COX6B1, COX7B, COX8A, CPOX, CPS1, CPT1A, CPT1C, CPT2, CRPPA, CRYAB, CTDP1, CYB5A, CYB5R3, CYBB, CYC1, CYCS, CYLD, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DAG1, DAO, DARS2, DBT, DCAF8, DCTN1, DCTN2, DES, DGAT2, DGUOK, DHODH, DHTKD1, DHX9, DIABLO, DLAT, DLD, DMD, DMGDH, DMP1, DMXL2, DNA2, DNAJB2, DNAJB4, DNAJB6, DNAJC19, DNAJC30, DNM1L, DNM2, DNMT1, DNMT3B, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DRP2, DST, DTNA, DUX4, DYNC1H1, DYSF, EARS2, ECEL1, ECHS1, EGR2, EHHADH, ELAC2, ELP1, EMD, EMILIN1, ENDOG, ENO3, EPG5, EPHA4, EPRS1, ERBB3, ERBB4, ERLIN2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXOSC8, EXOSC9, FARS2, FASTKD2, FBLN5, FBXL4, FBXO38, FDX2, FDXR, FECH, FGD4, FGFR1, FH, FHL1, FIG4, FKRP, FKTN, FLAD1, FLNC, FLRT1, FOXRED1, FUS, FXR1, GAA, GAN, GARS1, GATM, GBE1, GBF1, GCDH, GCK, GCSH, GDAP1, GFER, GFM1, GFM2, GFPT1, GGPS1, GIPC1, GJB1, GJB3, GK, GLDC, GLDN, GLE1, GLRX5, GLT8D1, GLUD1, GLYCTK, GMPPB, GNB4, GNE, GOLGA2, GOSR2, GP1BA, GPD2, GPT2, GPX1, GRN, GSN, GSR, GTPBP3, GYG1, GYS1, HACD1, HADH, HADHA, HADHB, HARS1, HARS2, HAX1, HCCS, HESX1, HEXB, HIBCH, HIKESHI, HINT1, HK1, HLCS, HMGCL, HMGCR, HMGCS1, HMGCS2, HNRNPA1, HNRNPA2B1, HNRNPDL, HOGA1, HRAS, HSD17B10, HSD3B2, HSPA9, HSPB1, HSPB3, HSPB8, HSPD1, HSPG2, HTRA2, IARS2, IBA57, IDH2, IDH3B, IGHMBP2, INF2, INPP5K, ISCA2, ISCU, ITGA7, ITPR3, IVD, JAG1, JAG2, JPH1, KARS1, KBTBD13, KCNA1, KCNE3, KCNJ18, KCNJ2, KCNJ5, KIF1A, KIF1B, KIF26B, KIF5A, KLC2, KLHL24, KLHL40, KLHL41, KLHL9, KY, L2HGDH, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LARS2, LAS1L, LDB3, LDHA, LETM1, LGI4, LHX2, LIAS, LIG3, LIMS2, LIPT1, LIPT2, LITAF, LMNA, LMOD3, LONP1, LPIN1, LRIF1, LRP10, LRP12, LRP4, LRPPRC, LRRC8C, LRSAM1, LYRM4, LYRM7, MACF1, MAG, MAMLD1, MAOA, MAP3K20, MAPT, MARS1, MARS2, MATR3, MB, MCAT, MCCC1, MCCC2, MCEE, MCM3AP, MCOLN1, MDH2, MECR, MEGF10, MFF, MFN2, MGME1, MICOS13, MICU1, MIEF1, MIPEP, MLIP, MLYCD, MMAA, MMAB, MMACHC, MME, MMUT, MOBP, MOCS1, MORC2, MPC1, MPDU1, MPV17, MPZ, MRM2, MRPL3, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS25, MRPS34, MRPS7, MSRB3, MSTO1, MTFMT, MTHFD1, MTM1, MTMR14, MTMR2, MTPAP, MTRFR, MTRR, MUSK, MUTYH, MYBPC1, MYBPC3, MYF6, MYH1, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOD1, MYOT, MYPN, NADK2, NAGLU, NAGS, NAIP, NARS2, NBAS, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NEFH, NEFL, NEK1, NEK9, NFU1, NGF, NNT, NOTCH2NLC, NR2F1, NTHL1, NTRK1, NUBPL, OAT, OBSCN, OGDH, OGG1, OPA1, OPA3, OPTN, ORAI1, OTC, OTX2, OXCT1, PAM16, PANK2, PARK7, PARS2, PAX7, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PDXK, PET100, PFKM, PFN1, PGAM2, PGK1, PGM1, PHB1, PHKA1, PHKA2, PHKG1, PHKG2, PHYH, PIEZO2, PIGG, PINK1, PIP5K1C, PLEC, PLEKHG5, PLIN4, PMM2, PMP2, PMP22, PNKD, PNKP, PNPLA2, PNPLA8, PNPT1, POC5, POGLUT1, POLG, POLG2, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON1, PON2, PON3, POPDC3, PPARGC1A, PPIB, PPM1K, PPOX, PRDM12, PREPL, PRICKLE3, PRKAG2, PRODH, PROKR2, PRPH, PRPS1, PRUNE1, PRX, PSAT1, PTCD3, PTRH2, PTS, PURA, PUS1, PYCR1, PYCR2, PYGM, PYROXD1, QDPR, RAB7A, RANBP2, RAPSN, RARS2, RBCK1, RBM7, REEP1, RETREG1, RMND1, RNASEH1, RNASEL, RPH3A, RRM2B, RTN2, RTN4IP1, RXYLT1, RYR1, RYR3, SACS, SARDH, SARS1, SARS2, SBF1, SBF2, SCFD1, SCN10A, SCN11A, SCN4A, SCN9A, SCO1, SCO2, SCP2, SCYL1, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SELENON, SEPTIN9, SERAC1, SETX, SFXN4, SGCA, SGCB, SGCD, SGCG, SGPL1, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC16A1, SLC18A3, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC44A1, SLC52A1, SLC52A2, SLC52A3, SLC5A7, SMCHD1, SMN1, SMN2, SMPX, SNAP25, SNF8, SNUPN, SOD1, SOD2, SORD, SOX2, SOX3, SOX8, SPART, SPAST, SPEG, SPG11, SPG7, SPTAN1, SPTBN4, SPTLC1, SPTLC2, SQSTM1, SRPK3, SSBP1, STAC3, STAR, STIM1, SUCLA2, SUCLG1, SUGCT, SUN1, SUN2, SUOX, SURF1, SYNE1, SYNE2, SYT15, SYT2, TACO1, TAF15, TAFAZZIN, TAMM41, TANGO2, TARDBP, TARS2, TBCD, TBCE, TBK1, TCAP, TCIRG1, TECPR2, TFAM, TFG, TIA1, TIMM22, TIMM44, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM43, TMEM65, TMEM70, TMLHE, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOP3A, TOR1AIP1, TPK1, TPM2, TPM3, TPP1, TRAPPC11, TRAPPC2L, TREM2, TRIM32, TRIM54, TRIM63, TRIP4, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TRPA1, TRPM7, TRPV4, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTN, TTR, TUBA4A, TUBB3, TUFM, TWNK, TXN2, TXNRD2, TYMP, UBA1, UBQLN2, UCHL1, UCP1, UCP3, UNC13A, UNC45B, UNG, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRFS1, UQCRQ, UROS, VAMP1, VAPB, VARS2, VCP, VMA21, VRK1, VWA1, WARS1, WARS2, WDR81, WFS1, WNK1, WWTR1, XPNPEP3, XK, YARS1, YARS2, YME1L1, ZBTB42, ZC4H2, ZFHX2.
Motor neurone disease
AARS1, ADCY6, ADGRG6, ADPRS, AGTPBP1, ALS2, ANG, ANXA11, AR, ARPP21, ASAH1, ASCC1, ATP7A, ATXN2, BICD2, BSCL2, CAPN1, CCNF, CFAP410, CHCHD10, CHMP2B, CNTNAP1, COQ7, COX18, COX20, CYLD, DAO, DCTN1, DES, DNAJB2, DNM2, DYNC1H1, EMILIN1, EPHA4, ERBB3, ERBB4, ERLIN2, EXOSC3, EXOSC8, EXOSC9, FBXO38, FIG4, FUS, GARS1, GBF1, GLDN, GLE1, GLT8D1, GRN, HEXB, HINT1, HNRNPA1, HNRNPA2B1, HSPB1, HSPB3, HSPB8, IGHMBP2, KIF26B, KIF5A, LAS1L, LRP10, LRP12, MAPT, MATR3, MCM3AP, MOBP, MYBPC1, MYH14, NAIP, NEFH, NEK1, NEK9, OPTN, PFN1, PIP5K1C, PLEKHG5, PON1, PON2, PON3, PPARGC1A, PRPH, PRUNE1, PSAT1, RBM7, REEP1, RTN2, SCFD1, SETX, SIGMAR1, SLC12A6, SLC25A46, SLC52A1, SLC52A2, SLC52A3, SLC5A7, SMN1, SMN2, SOD1, SORD, SPAST, SPG11, SPTAN1, SPTLC1, SPTLC2, SQSTM1, SYT2, TAF15, TARDBP, TBCE, TBK1, TIA1, TREM2, TRIP4, TRPM7, TRPV4, TSEN15, TSEN2, TSEN34, TSEN54, TTN, TUBA4A, UBA1, UBQLN2, UNC13A, VAPB, VCP, VRK1, VWA1, WARS1, ZBTB42.
ALS2, ANG, ANXA11, ARPP21, CCNF, CFAP410, CHCHD10, CHMP2B, CYLD, DAO, DCTN1, DYNC1H1, ERBB4, FIG4, FUS, GLE1, GLT8D1, GRN, HNRNPA1, KIF5A, LRP12, MATR3, MOBP, NEFH, NEK1, OPTN, PFN1, PON1, PON2, PON3, PPARGC1A, PRPH, SCFD1, SETX, SIGMAR1, SLC52A1, SLC52A2, SLC52A3, SOD1, SPAST, SPG11, SPTLC1, SQSTM1, TAF15, TARDBP, TBK1, TIA1, TREM2, TRPM7, TUBA4A, UBQLN2, UNC13A, VAPB, VCP.
SMN1, SMN2.
Neuropathies
AARS1, ABCD1, ABHD12, ACO2, AFG3L2, AGTPBP1, AIFM1, ALPK1, AP3B2, ARHGEF10, ARL6IP1, ARNT2, ASAH1, ATAD3A, ATG7, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BICD2, BLOC1S1, BORCS8, BSCL2, BTD, C19orf12, CADM3, CCT5, CFAP276, CHCHD10, CISD2, CNTNAP1, COA7, COQ7, COX20, COX6A1, CPOX, CTDP1, DARS2, DCAF8, DCTN1, DCTN2, DGAT2, DHTKD1, DHX9, DMXL2, DNAJB2, DNAJC30, DNM1L, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, EMILIN1, EPRS1, FBLN5, FBXO38, FDX2, FDXR, FGD4, FGFR1, FIG4, FLRT1, FXN, GAN, GARS1, GBF1, GDAP1, GJB1, GJB3, GNB4, GP1BA, GSN, HADHA, HADHB, HARS1, HESX1, HEXB, HIKESHI, HINT1, HK1, HSD17B10, HSPB1, HSPB3, HSPB8, IBA57, IGHMBP2, INF2, ISCA2, ITPR3, JAG1, JPH1, KARS1, KIF1A, KIF1B, KIF5A, KLC2, LETM1, LHX2, LITAF, LMNA, LRP12, LRRC8C, LRSAM1, MAG, MARS1, MCAT, MCM3AP, MECR, MFF, MFN2, MIEF1, MME, MORC2, MPV17, MPZ, MTMR2, MTPAP, MTRFR, MYH14, NAGLU, NBAS, NDRG1, NDUFA12, NDUFS2, NEFH, NEFL, NGF, NR2F1, NTRK1, OPA1, OPA3, OTX2, PDK3, PDSS1, PDXK, PHYH, PIGG, PLEKHG5, PMP2, PMP22, PNKP, POLG, POLR3B, PPIB, PPOX, PRDM12, PRICKLE3, PROKR2, PRPS1, PRX, PTRH2, RAB7A, REEP1, RETREG1, RTN2, RTN4IP1, SACS, SARS1, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SCO2, SCYL1, SDHA, SEPTIN9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A21, SLC25A46, SLC44A1, SLC52A2, SLC52A3, SLC5A7, SNF8, SORD, SOX2, SOX3, SPART, SPG11, SPG7, SPTAN1, SPTBN4, SPTLC1, SPTLC2, SSBP1, SURF1, SYT2, TBCD, TECPR2, TFG, TIMM8A, TMEM126A, TRIM2, TRIP4, TRPA1, TRPV4, TTR, TYMP, UBA1, UCHL1, VAPB, VCP, VRK1, VWA1, WARS1, WFS1, WNK1, YARS1, YME1L1, ZFHX2.
AARS1, ABHD12, AFG3L2, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CADM3, CFAP276, CNTNAP1, COA7, COX6A1, CTDP1, DARS2, DCAF8, DCTN1, DCTN2, DGAT2, DHTKD1, DHX9, DMXL2, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, EMILIN1, FBLN5, FBXO38, FGD4, FIG4, FXN, GAN, GARS1, GBF1, GDAP1, GJB1, GJB3, GNB4, HADHA, 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, PDXK, PDXK, PLEKHG5, PMP2, PMP22, PNKP, POLR3B, PRPS1, PRX, PTRH2, RAB7A, SACS, 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.
AARS1, ABCD1, ABHD12, AGTPBP1, AIFM1, ASAH1, ATP7A, BAG3, BICD2, BSCL2, CHCHD10, COQ7, CPOX, DCTN1, DNAJB2, DYNC1H1, EMILIN1, FBXO38, GARS1, GSN, HADHA, HADHB, HARS1, HEXB, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, LRP12, MFN2, MORC2, MYH14, PHYH, PIGG, PLEKHG5, PPOX, REEP1, RTN2, SCN9A, SCO2, SEPTIN9, SETX, SIGMAR1, SLC12A6, SLC25A21, SLC52A2, SLC52A3, SLC5A7, SORD, SPART, SPTAN1, SPTBN4, SYT2, TFG, TRIP4, TRPV4, TTR, TYMP, UBA1, VAPB, VRK1, VWA1, WARS1.
ARL6IP1, ATL1, ATL3, CCT5, COX20, DNMT1, DST, ELP1, HK1, KIF1A, KIF5A, NAGLU, NGF, NTRK1, PRDM12, RAB7A, RETREG1, SCN10A, SCN11A, SCN9A, SPTLC1, SPTLC2, TECPR2, TRPA1, TTR, WNK1, ZFHX2.
ACO2, AFG3L2, ALPK1, AP3B2, ARNT2, ATAD3A, ATG7, BLOC1S1, BORCS8, BTD, C19orf12, CISD2, DNAJC30, DNM1L, EPRS1, FDX2, FDXR, FGFR1, FLRT1, GP1BA, HESX1, HIKESHI, HK1, HSD17B10, IBA57, ISCA2, KLC2, LETM1, LHX2, LRRC8C, MAG, MCAT, MECR, MFF, MFN2, MIEF1, MTATP6, MTCO1, MTCO3, MTCYB, MTND1, MTND2, MTND3, MTND4, MTND4L, MTND5, MTND6, MTPAP, MTRFR, MTTK, MTTL1, MTTS2, NBAS, NDUFA12, NDUFS2, NR2F1, OPA1, OPA3, OTX2, PDSS1, PDXK, POLG, PPIB, PRICKLE3, PROKR2, PRPS1, RTN4IP1, SDHA, SLC25A46, SLC44A1, SLC52A2, SLC52A3, SNF8, SOX2, SOX3, SPG7, SSBP1, TBCD, TFG, TIMM8A, TMEM126A, UCHL1, WFS1, YME1L1.
Congenital myasthenia
AGRN, AK9, ALG14, ALG2, CACNA1A, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CIAO1, COL13A1, COLQ, DES, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MACF1, MUSK, MYO9A, PLEC, PREPL, PURA, RAPSN, RPH3A, RYR1, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT15, SYT2, TOR1AIP1, UNC13A, VAMP1.
Myopathies
Structural myopathy
ACTA1, ACTN2, ADSS1, AGL, ANO5, ATP2A1, B3GALNT2, B4GAT1, BAG3, BET1, BIN1, BVES, CACNA1H, CACNA1S, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHKB, CIAO1, CLN3, CNTN1, COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, CRPPA, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DNMT3B, DOK7, DOLK, DPM1, DPM2, DPM3, DTNA, DUX4, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, FXR1, GAA, GBE1, GGPS1, GIPC1, GMPPB, GNE, GOLGA2, GOSR2, HACD1, HMGCR, HNRNPA1, HNRNPA2B1, HNRNPDL, HRAS, HSPB1, HSPB8, INPP5K, ITGA7, JAG2, KBTBD13, KLHL40, KLHL41, KLHL9, KY, LAMA2, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, LRIF1, MAP3K20, MATR3, MB, MEGF10, MICU1, MSTO1, MTM1, MYH2, MYH7, MYL1, MYL2, MYMK, MYO18B, MYOT, MYPN, NEB, NOTCH2NLC, ORAI1, PAX7, PHKA1, PLEC, PLIN4, PMM2, PNPLA2, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PTRH2, PYROXD1, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SMCHD1, SMPX, SNUPN, SPEG, SPTBN4, SQSTM1, SRPK3, STAC3, STIM1, SUN1, SUN2, SYNE1, SYNE2, TARDBP, TCAP, TIA1, TK2, TMEM43, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIM54, TRIM63, TRIP4, TRPV4, TTN, TUBB3, VCP, VMA21, XK.

DMD.

DMD.

ANO5, BVES, CACNA1S, CAPN3, CAV3, COL12A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DES, DNAJB6, DMD, DOK7, DPM3, DTNA, DYSF, FKRP, FKTN, GAA, GMPPB, GNE, HMGCR, HNRNPDL, JAG2, LAMA2, LIMS2, LIMS2, LMNA, MYOT, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PYROXD1, SGCA, SGCB, SGCD, SGCG, SNUPN, SRPK3, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN.
PABPN1.
EMD, FHL1, LMNA, SUN1, SUN2, SYNE1, SYNE2, TMEM43, TTN.
ACTA1, ACTN2, ADSS1, ANO5, BAG3, BVES, CAPN3, CAV3, CNBP, CRYAB, DES, DMD, DMPK, DNAJB6, DNM2, DUX4, DYSF, DYSF, EMD, FHL1, FLNC, GBE1, GIPC1, GNE, HNRNPA1, HSPB1, HSPB8, KLHL9, KY, LAMP2, LDB3, LMNA, LRIF1, MATR3, MYH7, MYOT, NEB, PHKA1, PLIN4, PNPLA2, PYROXD1, RYR1, SELENON, SMPX, SQSTM1, TARDBP, TCAP, TIA1, TRPV4, TTN, VCP.
Myotonia
DMPK.
CNBP.
ATP1A2, ATP2A1, CACNA1A, CACNA1S, CLCN1, HINT1, HSPG2, KCNA1, KCNE3, KCNJ18, KCNJ2, KCNJ5, SCN4A.
ACTA1, ACTN2, ADSS1, ASCC1, ASCC3, B3GALNT2, B3GNT2, B4GAT1, BIN1, CACNA1H, CACNA1S, CASQ1, CCDC174, CCDC78, CFL2, CHKB, CNTN1, COL12A1, COL13A1, COL25A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMP1, DNAJB4, DNM2, DOK7, DOLK, DPM3, ECEL1, EPG5, FHL1, FKRP, FKTN, FXR1, GMPPB, GOLGA2, GOSR2, HACD1, HMGCS1, HNRNPA1, HRAS, INPP5K, ITGA7, JPH1, KBTBD13, KLHL40, KLHL41, LAMA2, LARGE1, LETM1, LMNA, LMOD3, MAMLD1, MAP3K20, MCOLN1, MEGF10, MSTO1, MTM1, MTMR14, MYBPC1, MYBPC3, MYF6, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYMK, MYO18B, MYOD1, MYPN, NEB, NEFL, ORAI1, PAX7, PIEZO2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PYROXD1, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SLC25A4, SOX8, SPEG, SPTBN4, STAC3, STIM1, TCAP, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TPM2, TPM3, TRAPPC11, TRAPPC2L, TRIM32, TRIP4, TTN, UNC45B, VMA21, ZC4H2.
AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, ANO5, ATP2A2, BCS1L, C1QBP, CACNA1S, CASQ1, CAV3, CAVIN1, CHCHD10, CHKB, COQ2, COQ4, COQ8A, COQ9, COX10, COX15, COX6A2, CPT2, DGUOK, DNA2, DPM1, DPM2, DYSF, EARS2, ECHS1, ENO3, ETFA, ETFB, ETFDH, ETHE1, FARS2, FBXL4, FDX2, FLAD1, FOXRED1, GAA, GBE1, GFER, GFM1, GNE, GYG1, GYS1, HADHA, HADHB, IARS2, ISCU, KLHL24, LAMP2, LDHA, LIG3, LIPT1, LPIN1, LRPPRC, MGME1, MICU1, MLIP, MPDU1, MSTO1, MTRFR, NDUFA1, NDUFA11, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, OPA1, PDHA1, PDHB, PDHX, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PNPLA2, PNPLA8, PNPT1, POC5, POLG, POLG2, PRKAG2, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, RYR1, SCN4A, SCO2, SDHA, SDHAF1, SDHB, SDHD, SIL1, SLC16A1, SLC19A3, SLC22A5, SLC25A20, SLC25A3, SLC25A32, SLC25A4, SLC25A42, SUCLA2, SUCLG1, SURF1, TAFAZZIN, TAMM41, TANGO2, TIMMDC1, TK2, TMEM126B, TMEM65, TSFM, TTC19, TWNK, TYMP, WWTR1, YARS2.
ACAD9, ACADM, ACADVL, AGK, AGL, ALDOA, AMPD1, ANO5, ATP2A2, C1QBP, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CHKB, COL4A1, COQ4, COQ8A, CPT2, DGUOK, DMD, DTNA, DYSF, ENO3, ETFA, ETFB, ETFDH, FDX2, FKRP, FLAD1, GAA, GBE1, GMPPB, GYG1, GYS1, HADHA, HADHB, ISCU, KCNJ2, LAMP2, LDHA, LPIN1, MLIP, MYH1, OBSCN, PFKM, PGAM2, PGK1, PGM1, PHKA1, POC5, POLG, POLG2, PRKAG2, PYGM, RBCK1, RRM2B, RYR1, SCN4A, SGCA, SIL1, SLC22A5, SLC25A20, SUCLA2, TANGO2, TK2, TWNK, TYMP.
AARS2, AASS, ABAT, ABCB6, ABCB7, ABCD1, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACSL4, AFG3L2, AGK, AGXT, AIFM1, AK2, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, AMACR, AMT, APOO, APTX, ARMS2, ASS1, ATAD3A, ATIC, ATP5F1A, ATP5F1D, ATP5F1E, ATP5MK, ATP7B, ATPAF2, AUH, BAX, BCKDHA, BCKDHB, BCKDK, BCL2, BCS1L, BOLA3, BTD, C19orf12, C1QBP, CA5A, CARS2, CASP8, CAT, CAVIN1, CHCHD10, CHKB, CIAO1, CISD2, CLN3, CLPB, CLPP, COA3, COA5, COA6, COA8, COASY, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX16, COX20, COX4I2, COX6A1, COX6A2, COX6B1, COX7B, COX8A, CPOX, CPS1, CPT1A, CPT1C, CPT2, CYB5A, CYB5R3, CYBB, CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS2, DBT, DGUOK, DHODH, DHTKD1, DIABLO, DLAT, DLD, DMGDH, DMPK, DNA2, DNAJC19, DNM1L, DNM2, EARS2, ECHS1, EHHADH, ELAC2, ENDOG, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FECH, FH, FLAD1, FOXRED1, FXN, GARS1, GATM, GCDH, GCK, GCSH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GLYCTK, GPD2, GPT2, GPX1, GSR, GTPBP3, HADH, HADHA, HADHB, HARS2, HAX1, HCCS, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSD3B2, HSPA9, HSPD1, HTRA2, IARS2, IBA57, IDH2, IDH3B, ISCA2, ISCU, IVD, KARS1, KIF1B, KIF5A, L2HGDH, LARS2, LETM1, LIAS, LIPT1, LIPT2, LONP1, LRPPRC, LYRM4, LYRM7, MAOA, MARS2, MCCC1, MCCC2, MCEE, MDH2, MFF, MFN2, MGME1, MICOS13, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MPC1, MPV17, MRM2, MRPL3, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS25, MRPS34, MRPS7, MSRB3, MSTO1, MTFMT, MTHFD1, MTO1, MTPAP, MTRFR, MTRR, MMUT, MUTYH, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NNT, NTHL1, NUBPL, OAT, OGDH, OGG1, OPA1, OPA3, OTC, OXCT1, PAM16, PANK2, PARK7, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PET100, PHB1, PINK1, PNKD, PNPLA8, PNPT1, POLG, POLG2, PPM1K, PPOX, PRODH, PTCD3, PTRH2, PTS, PUS1, PYCR1, PYCR2, QDPR, RANBP2, RARS2, REEP1, RMND1, RNASEH1, RNASEL, RRM2B, SARDH, SARS2, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SFXN4, SLC16A1, SLC19A3, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SOD1, SOD2, SPART, SPG7, SPTLC2, STAR, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TARS2, TCIRG1, TFAM, TIMM22, TIMM44, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM65, TMEM70, TMLHE, TOP3A, TPK1, TPP1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTBK2, TTC19, TUFM, TWNK, TXN2, TXNRD2, TYMP, UCP1, UCP3, UNG, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRFS1, UQCRQ, UROS, VARS2, WARS2, WDR81, WWTR1, XPNPEP3, YARS2, YME1L1.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Leukodystrophy Type I: 1 study

Leukodystrophies are a heterogeneous group of inherited disorders that affect the white matter of the central nervous system. Clinical manifestations and signs vary widely, although motor disorders typically dominate the clinical picture. This targeted exome analysis examines the genes associated with inherited leukodystrophies and leukoencephalopathies.
AARS1, AARS2, ABCD1, ACBD5, ACER3, ACOX1, ADAR, AIFM1, AIMP1, AIMP2, ALDH3A2, ANXA11, APP, AQP4, ARSA, ASPA, ATP11A, ATPAF2, AUH, BCAP31, CLCN2, CLDN11, CNP, COA7, COA8, COL4A1, COL4A2, COQ2, COQ8A, COX10, CSF1R, CST3, CTC1, CTSA, CYP27A1, DARS1, DARS2, DEGS1, DGUOK, EARS2, EIF2AK1, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPRS1, ERCC2, ERCC3, ERCC6, ERCC8, FA2H, FDX2, FOLR1, FUCA1, GALC, GALT, GBE1, GCDH, GFAP, GFM1, GJA1, GJB1, GJC2, GLA, GLB1, GPRC5B, GSN, HEPACAM, HEXA, HIKESHI, HMBS, HMGCL, HSD17B4, HSPD1, HTRA1, HYCC1, ISCA2, ITM2B, KARS1, KIF5A, L2HGDH, LAMB1, LARS2, LIG3, LMNB1, MAL, MARS1, MARS2, MCOLN1, MLC1, MPLKIP, MRPS16, MTHFR, NADK2, NAXD, NAXE, NDUFA2, NDUFS7, NDUFV1, NDUFV2, NFE2L2, NKX6-2, NOTCH3, NPC1, NUTM2B-AS1, OCRL, 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, PSEN2, PYCR2, RARS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF216, RNF220, RPIA, SAMHD1, SCP2, SLC13A3, SLC16A2, SLC35B2, SLC7A2, SOX10, SPG11, SPG21, SUMF1, TMEM106B, TMEM163, TMEM63A, TPP2, TREM2, TREX1, TTR, TUBB4A, TWNK, TYMP, TYROBP, UFM1, VPS11, ZFYVE26.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Hereditary spastic paraparesis type I: 1 study

Hereditary spastic paraparesis (HSP) comprises a genetically and clinically heterogeneous group of neurodegenerative disorders whose predominant signs and symptoms are weakness and spasticity in the lower limbs. We offer a targeted exome analysis that examines the genes associated with the various types of spastic paraparesis, including pure and complex forms, and covers the different patterns of inheritance.
ABCD1, ABHD16A, ACBD6, ADAR, AFG2B, AFG3L2, AIMP1, ALDH18A1, ALDH3A2, ALK, ALS2, AMFR, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP13A2, ATP2B4, B4GALNT1, BCAS3, BHLHE22, BICD2, BLOC1S1, BORCS8, BSCL2, C19orf12, CAPN1, CCDC82, CCT5, CDK16, CHP1, CLDN11, COQ4, CPT1C, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS2, DDHD1, DDHD2, DDX3X, DNM2, DSTYK, ELOVL1, ENTPD1, ERLIN1, ERLIN2, EXOSC8, FA2H, FAR1, FARS2, FBXO7, FICD, FLRT1, FLVCR1, GAD1, GALC, GBA2, GBE1, GCH1, GFAP, GJA1, GJC2, GLRX5, GPT2, GRID2, HACE1, HECTD4, HIKESHI, HMBS, HPDL, HSPD1, IBA57, IFIH1, INPP4A, KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KLC4, KPNA3, KY, L1CAM, LETM1, LSM7, LYST, MAG, MAPK8IP3, MARS1, MARS2, MTPAP, MTRFR, NDUFA12, NFU1, NIPA1, NKX6-2, NOTCH3, NRCAM, NSRP1, NT5C2, OGDHL, OPA3, PCYT2, PGAP1, PI4KA, PLP1, PNPLA6, POLG, POLR3A, POLR3K, PPFIBP1, PRNP, PSEN1, RAB3GAP2, REEP1, REEP2, RETREG1, RHOB, RINT1, RNASEH2B, RNF170, RTN2, SACS, SELENOI, SERAC1, SLC16A2, SLC1A4, SLC25A15, SLC25A46, SLC2A1, SLC33A1, SOD1, SPART, SPAST, SPG11, SPG21, SPG7, SPTAN1, SPTSSA, STN1, TAF8, TBCB, TECPR2, TFG, TMEM63C, TNR, TTC19, TUBB4A, UBAP1, UCHL1, USP8, VAMP1, VPS37A, WASHC5, WDR45B, WDR48, ZFR, ZFYVE26, ZFYVE27.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Epilepsy I: 1 study

Epilepsy is a disorder of the central nervous system in which normal brain activity is disrupted, causing seizures or episodes of unusual behavior and sensations, and even loss of consciousness. The underlying causes are numerous and varied. We offer targeted exome sequencing that analyzes genes associated with different types of epilepsy, including generalized epilepsy with or without febrile seizures, focal epilepsy, and myoclonic epilepsy, providing a comprehensive genetic evaluation that facilitates the diagnosis and management of the disease.
AARS1, AARS2, AASS, ABAT, ABCA2, ABCC8, ABCC9, ABHD16A, ACBD6, ACOX1, ACTB, ACTG1, ACTL6B, ACY1, ADAM22, ADAR, ADARB1, ADAT3, ADCY5, ADD1, ADGRG1, ADGRL1, ADGRV1, ADNP, ADPRS, ADRA2B, ADSL, AFF3, AFG2A, AFG2B, AFG3L2, AGA, AGMO, AGO1, AHDC1, AIMP1, AIMP2, AJAP1, AKT1, AKT3, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALPL, AMACR, AMPD2, AMT, ANK2, ANK3, ANKRD11, ANKRD17, ANO4, AP1G1, AP2M1, AP3B2, AP3D1, AP4B1, AP4M1, APC2, ARF1, ARF3, ARFGEF1, ARFGEF2, ARG1, ARHGEF19, ARHGEF9, ARID1A, ARID1B, ARSA, ARV1, ARX, ASAH1, ASH1L, ASL, ASNS, ASPA, ASPM, ASTN1, ASXL2, ASXL3, ATAD1, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2B1, ATP2B2, ATP5F1A, ATP5F1E, ATP5MC3, ATP5PO, ATP6AP2, ATP6V0A1, ATP6V0A2, ATP6V0C, ATP6V1A, ATP6V1B2, ATP7A, ATRX, AUTS2, B3GALNT2, B3GLCT, B4GAT1, BAIAP2, BAP1, BAZ2B, BCAS3, BCKDHA, BCKDHB, BCKDK, BCL11A, BCS1L, BICD2, BLOC1S1, BLTP1, BOLA3, BORCS8, BPTF, BRAF, BRAT1, BRD7, BRSK1, BSCL2, BSN, BTD, C12orf57, C19orf12, C2orf69, C3ORF33, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA1I, CACNA2D1, CACNA2D2, CACNB4, CAD, CAMK2A, CAMK2B, CAMK2D, CAMSAP1, CAMTA1, CAPRIN1, CAPZA2, CARS2, CASK, CASP2, CASR, CC2D2A, CCDC22, CCDC88A, CCDC88C, CCM2, CCND2, CDC42BPB, CDK13, CDK19, CDK5, CDKL5, CELF2, CELF4, CENPF, CEP85L, CERS1, CERT1, CHD1, CHD2, CHD3, CHD4, CHD5, CHKA, CHRNA2, CHRNA4, CHRNB2, CIC, CILK1, CLCN2, CLCN3, CLCN4, CLCN6, CLDN5, CLN3, CLN5, CLN6, CLN8, CLPB, CLTC, CNKSR2, CNNM2, CNOT9, CNPY3, CNTN2, CNTNAP1, CNTNAP2, COG3, COG4, COG6, COG7, COG8, COL18A1, COL3A1, COL4A1, COL4A2, COLGALT1, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX11, COX15, COX6B1, CP, CPA6, CPLX1, CPSF3, CPT2, CRADD, CREBBP, CRELD1, CRNKL1, CRPPA, CSF1R, CSNK1G1, CSNK2A1, CSNK2B, CSTA, CSTB, CTNNA2, CTNND2, CTSD, CTSF, CTU2, CUL3, CUL4B, CUX1, CUX2, CWF19L1, CYFIP2, CYP27A1, D2HGDH, DAG1, DALRD3, DBT, DCHS1, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DENND5B, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHRSX, DHX16, DHX30, DHX9, DIAPH1, DLG4, DLL1, DMXL2, DNAJC5, DNAJC6, DNM1, DNM1L, DNMT3A, DOCK7, DOHH, DOLK, DPAGT1, DPH5, DPM1, DPM2, DPM3, DPYD, DROSHA, DTYMK, DYNC1H1, DYNC2H1, DYRK1A, EARS2, ECHS1, ECM1, EED, EEF1A2, EEF1B2, EEFSEC, EFHC1, EFTUD2, EHMT1, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A2, ELFN1, ELOVL4, EMC1, EMC10, EML1, EMX2, ENTPD1, EPB41L3, EPG5, EPM2A, ERMARD, ESAM, ETHE1, EXOC7, EXOSC3, EXT2, FA2H, FAM50A, FANCL, FAR1, FARS2, FASTKD2, FBXL4, FBXO11, FBXO28, FCSK, FDFT1, FGF12, FGF13, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FLVCR1, FOLR1, FOXG1, FOXP1, FOXRED1, FRA10AC1, FRMD5, FRRS1L, FUCA1, FUT8, FZR1, GABBR2, GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GAL, GALC, GALNT2, GAMT, GATAD2B, GATM, GBA1, GCDH, GCH1, GCSH, GFAP, GFM1, GLB1, GLDC, GLI3, GLRA1, GLRA2, GLRB, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAI1, GNAO1, GNAQ, GNB1, GNB5, GOSR2, GOT2, GPAA1, GPHN, GPSM2, GPT2, GRIA1, GRIA2, GRIA3, GRIA4, GRIK1, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM7, GRN, GSS, GTF3C3, GTPBP2, GTPBP3, GUF1, H3-3A, H3-3B, HACE1, HAX1, HCCS, HCFC1, HCN1, HCN2, HCN4, HDAC3, HDAC8, HEATR3, HEATR5B, HECTD4, HECW2, HEPACAM, HERC2, HEXA, HEXB, HID1, HIVEP2, HK1, HLCS, HMGCL, HNRNPH1, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HOXA1, HPDL, HPRT1, HRAS, HSD17B10, HSD17B4, HSPD1, HTRA2, HTT, IARS2, IBA57, IDH2, IER3IP1, IFIH1, IKBKG, INPP4A, INTS11, INTS8, IQSEC2, IRF2BPL, ISCA1, ITGB4, ITPA, JAKMIP1, JARID2, JMJD1C, JRK, KANSL1, KARS1, KAT5, KAT6A, KAT8, KATNB1, KCNA1, KCNA2, KCNA3, KCNA6, KCNAB1, KCNB1, KCNB2, KCNC1, KCNC2, KCND2, KCND3, KCNH1, KCNH5, KCNJ10, KCNJ11, KCNK4, KCNMA1, KCNN2, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM2A, KDM2B, KDM4B, KDM5A, KDM5C, KDM6A, KDM6B, KICS2, KIF1A, KIF2A, KIF5A, KIF5B, KIF5C, KIFBP, KLHL20, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KMT5B, KPTN, KRAS, KRIT1, L2HGDH, LAMA2, LAMC3, LARGE1, LARS1, LETM1, LGI1, LIAS, LIG3, LIPT1, LIPT2, LMAN2L, LMBRD2, LMNB1, LMNB2, LMX1B, LNPK, LRBA, LRPPRC, LSS, LYST, MACF1, MADD, MAF, MANBA, MAP1B, MAP2K1, MAP2K2, MAPK10, MARCHF6, MARK2, MAST1, MAST3, MAST4, MBD5, MBOAT7, MCM3AP, MCPH1, MDH1, MDH2, MECP2, MED11, MED12, MED13L, MED17, MED23, MED27, MEF2C, MFF, MFSD8, MINPP1, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MSL2, MTHFR, MTHFS, MTOR, MTR, MYCBP2, MYT1L, NAA10, NAA15, NACC1, NAGA, NAGLU, NALCN, NAPB, NARS1, NARS2, NAXE, NBEA, NCDN, NCKAP1, NDE1, NDP, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA6, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEU1, NEUROD2, NEXMIF, NF1, NGLY1, NHLRC1, NHLRC2, NOTCH3, NOVA2, NPC1, NPC2, NPRL2, NPRL3, NR2F1, NR4A2, NRAS, NRROS, NRXN1, NSD1, NSDHL, NSF, NSRP1, NTRK2, NUBPL, NUP214, NUS1, OCLN, OCRL, OFD1, OGDHL, OPHN1, OSGEP, OTUD5, OTUD6B, OTUD7A, OTX2, OXR1, P4HTM, PABPC1, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK2, PAK3, PANK2, PARP6, PARS2, PAX6, PCCA, PCCB, PCDH12, PCDH19, PCDH7, PCDHGC4, PCLO, PCYT2, PDCD10, PDE2A, PDHA1, PDHX, PDSS2, PDYN, PET100, PEX1, PEX10, PEX12, PEX13, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP2, PGAP3, PGK1, PGM2L1, PHACTR1, PHF21A, PHF6, PHGDH, PHIP, PI4K2A, PI4KA, PIDD1, PIGA, PIGB, PIGC, PIGF, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIK3CA, PIK3R2, PINK1, PIP5K1C, PLA2G6, PLAA, PLCB1, PLK1, PLP1, PLPBP, PLXNA1, PMM2, PMPCB, PNKP, PNPLA8, PNPO, PNPT1, POGZ, POLG, POLG2, POLR1A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU3F3, PPFIA3, PPFIBP1, PPIL1, PPOX, PPP1R1B, PPP1R3F, PPP2CA, PPP2R1A, PPP2R2B, PPP2R5C, PPP2R5D, PPP3CA, PPT1, PRDM8, PRICKLE1, PRICKLE2, PRIMA1, PRMT7, PRMT9, PRNP, PRODH, PRPF8, PRRT2, PRUNE1, PSAP, PSAT1, PSPH, PTCD3, PTCH1, PTEN, PTF1A, PTPMT1, PTPN23, PTS, PUF60, PUM1, PURA, PUS3, QARS1, QDPR, RAB11A, RAB11B, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAB5C, RABGAP1, RAC3, RAI1, RALA, RALGAPA1, RANBP2, RAPGEF2, RARS1, RARS2, RELN, RERE, RFT1, RFX3, RHEB, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF13, RNF2, ROGDI, RORA, RORB, RPH3A, RPIA, RPS6KA3, RPS6KC1, RRM2B, RTN4IP1, RTTN, RUSC2, RXRG, RYR2, RYR3, SACS, SAMD12, SAMHD1, SARS1, SATB1, SATB2, SCAF4, SCAMP5, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SCO1, SCO2, SDHA, SEMA6B, SEPSECS, SERAC1, SERPINI1, SETBP1, SETD1A, SETD1B, SETD5, SGSH, SHANK3, SHH, SHQ1, SIK1, SIX3, SLC12A5, SLC13A3, SLC13A5, SLC16A2, SLC19A3, SLC1A2, SLC1A4, SLC22A5, SLC25A1, SLC25A12, SLC25A22, SLC2A1, SLC31A1, SLC32A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC38A3, SLC39A8, SLC45A1, SLC46A1, SLC4A10, SLC5A6, SLC6A1, SLC6A5, SLC6A8, SLC7A6OS, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMS, SNAP25, SNAP29, SNF8, SNIP1, SNX27, SON, SOX11, SOX2, SP9, SPOUT1, SPR, SPTAN1, SPTBN1, SPTBN4, SRCAP, ST3GAL3, ST3GAL5, STAG1, STAMBP, STARD7, STAT4, STEEP1, STRADA, STX1A, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SV2A, SYN1, SYNCRIP, SYNE1, SYNGAP1, SYNJ1, SYT1, SZT2, TAF8, TANC2, TANGO2, TAOK1, TARS2, TBC1D20, TBC1D24, TBC1D2B, TBC1D7, TBCD, TBCK, TBL1XR1, TBX19, TCEAL1, TCF4, TDP2, TEFM, TELO2, TET3, TFE3, TGIF1, THG1L, THOC2, TIAM1, TIMM50, TK2, TLK2, TMEM106B, TMEM167A, TMEM222, TMEM63B, TMEM70, TMTC3, TMX2, TNK2, TNPO2, TNRC6A, TPK1, TPP1, TRA2B, TRAF7, TRAK1, TRAPPC10, TRAPPC11, TRAPPC12, TRAPPC4, TRAPPC6B, TREM2, TREX1, TRIM8, TRIO, TRIP12, TRIP13, TRIT1, TRMT1, TRMT10A, TRPM3, TRPM6, TRPM7, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSPYL1, TTC21B, TTC5, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TUBGCP6, TWNK, TXNRD1, U2AF2, UBA5, UBAP2L, UBE2A, UBE3A, UBR5, UBR7, UBTF, UFC1, UFM1, UFSP2, UGDH, UGGT1, UGP2, UMPS, UNC13A, UNC79, UNC80, USP18, USP7, VAMP2, VARS1, VARS2, VLDLR, VPS11, VPS13A, VPS13D, VPS4A, VPS50, WAC, WARS2, WASF1, WASHC4, WDFY3, WDR26, WDR37, WDR45, WDR45B, WDR47, WDR5, WDR62, WDR73, WNK3, WSB2, WWOX, XK, XPR1, YEATS2, YIF1B, YIPF5, YWHAE, YWHAG, ZBTB18, ZBTB47, ZC4H2, ZDHHC9, ZEB2, ZIC2, ZMIZ1, ZMYM2, ZMYND11, ZMYND8, ZNF142, ZNF148, ZNF335, ZNF526, ZNFX1, ZNHIT3, ZSWIM6.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Neurodevelopmental Disorders I: 5 Studies

Neurodevelopmental disorders encompass a group of conditions that affect brain and cognitive development from an early age. We offer assessments for Autism Spectrum Disorder (ASD) and intellectual disability, both of which are cognitive disorders with heterogeneous, complex, and multifactorial origins that may occur in isolation or as part of a syndrome, and which often have a significant genetic component. In addition, we offer specific testing using other molecular techniques for other neurodevelopmental syndromes such as Fragile X Syndrome, Angelman Syndrome, and Prader-Willi Syndrome.

ABAT, ABCA10, ABCA13, ABCA7, ABCE1, ACAP2, ACE, ACHE, ACTB, ACTL6B, ACTN4, ACY1, ADA, ADCY3, ADCY5, ADGRL1, ADK, ADNP, ADORA2A, ADORA3, ADRB2, ADSL, ADSS2, AFF2, AGAP1, AGAP2, AGBL4, AGMO, AGO1, AGO2, AGO3, AGO4, AGTR2, AHDC1, AHI1, AHNAK, AKAP9, ALDH1A3, ALDH5A1, ALG6, AMPD1, AMT, ANK2, ANK3, ANKRD11, ANKRD17, ANKS1B, ANP32A, ANXA1, AP1S2, AP2M1, AP2S1, APBA2, APBB1, APH1A, AR, ARF3, ARHGAP11B, ARHGAP32, ARHGAP5, ARHGEF10, ARHGEF9, ARID1A, ARID1B, ARID2, ARNT2, ARX, ASAP2, ASB14, ASH1L, ASMT, ASPM, ASTN2, ASXL3, ATP10A, ATP1A1, ATP1A3, ATP2B1, ATP2B2, ATP6V0A2, ATP9A, ATRX, AUTS2, AVPR1A, AVPR1B, AZGP1, BAZ2B, BBS4, BCAS1, BCKDK, BCL11A, BCORL1, BICDL1, BICRA, BIRC6, BRAF, BRCA2, BRD4, BRSK2, BRWD3, BST1, BTAF1, BTRC, C12orf57, C15orf62, C4B, CA6, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I, CACNA2D1, CACNA2D3, CACNB2, CACNG2, CADM1, CADM2, CADPS, CADPS2, CAMK2A, CAMK2B, CAMK2D, CAMK4, CAMTA2, CAPN12, CAPRIN1, CARD11, CASK, CASKIN1, CASZ1, CBX1, CC2D1A, CCDC88C, CCDC91, CCIN, CCNG1, CCNK, CCSER1, CCT4, CD276, CD38, CD99L2, CDC42BPB, CDH10, CDH11, CDH13, CDH2, CDH22, CDH8, CDH9, CDK13, CDK16, CDK19, CDK8, CDK5RAP2, CDKL5, CECR2, CELF2, CELF4, CELF6, CEP135, CEP290, CEP41, CERT1, CGNL1, CHAMP1, CHD1, CHD2, CHD3, CHD4, CHD7, CHD8, CHKB, CHMP1A, CHRM3, CHRNA7, CHRNB3, CIB2, CIC, CLASP1, CLCN4, CLN8, CLTCL1, CMIP, CMPK2, CNGB3, CNKSR2, CNOT1, CNOT3, CNR1, CNTN3, CNTN4, CNTN5, CNTN6, CNTNAP2, CNTNAP3, CNTNAP4, CNTNAP5, COL28A1, CORO1A, CPEB4, CPSF7, CPT2, CPZ, CREBBP, CSDE1, CSMD1, CSNK1E, CSNK1G1, CSNK2A1, CSNK2B, CTCF, CTNNA2, CTNNA3, CTNNB1, CTNND1, CTNND2, CTR9, CTTNBP2, CUL3, CUL4B, CUL7, CUX1, CUX2, CX3CR1, CYFIP1, CYLC2, CYP11B1, CYP27A1, DAGLA, DAPP1, DCC, DDC, DDHD2, DDX23, DDX3X, DDX53, DEAF1, DENND2B, DENR, DEPDC5, DHCR7, DHX30, DHX9, DIP2A, DIP2C, DIPK2A, DISC1, DIXDC1, DLG1, DLG2, DLG4, DLGAP1, DLGAP2, DLGAP3, DLL1, DLX2, DLX3, DLX6, DMD, DMPK, DMWD, DMXL2, DNAH10, DNAH17, DNAH3, DNER, DNMT3A, DOCK1, DOCK4, DOCK8, DOLK, DOT1L, DPP10, DPP3, DPP4, DPP6, DPYD, DPYSL2, DPYSL3, DRD1, DRD2, DRD3, DSCAM, DST, DUSP15, DVL3, DYDC1, DYDC2, DYNC1H1, DYRK1A, EBF3, ECPAS, EEF1A2, EFR3A, EGR3, EHMT1, EIF3G, EIF4E, ELAVL2, ELAVL3, ELOVL2, ELP2, ELP4, EMSY, EN2, EP300, EP400, EPC2, EPHA1, EPHB2, EPPK1, ERBIN, ERG, ERMN, ESR2, ESRRB, ETFB, EXOC3, EXOC5, EXOC6, EXOC6B, EXT1, FABP5, FAM47A, FAM98C, FAN1, FAT1, FBN1, FBRSL1, FBXO11, FBXO33, FBXO40, FCRL6, FEZF2, FGA, FGF13, FGFR1, FHIT, FMR1, FOXG1, FOXP1, FOXP2, FRG1, FRK, FRMD5, FRMPD4, FRYL, G3BP2, GABBR2, GABRA3, GABRA4, GABRB2, GABRB3, GABRG3, GALNT10, GALNT13, GALNT14, GALNT2, GALNT8, GAS2, GATM, GBE1, GDA, GFAP, GGNBP2, GIGYF1, GIGYF2, GLIS1, GLO1, GLRA2, GNAI1, GNAS, GNB1L, GNB2, GPC4, GPC6, GPD2, GPHN, GPR37, GPR85, GPX1, GRIA1, GRIA2, GRIA3, GRID1, GRID2, GRID2IP, GRIK2, GRIK3, GRIK4, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIP1, GRK4, GRM5, GRM7, GSTM1, GTF2I, GUCY1A2, H1-4, H2BC11, H3-3B, H4C11, H4C3, H4C5, HCFC1, HCN1, HDAC4, HDAC8, HDLBP, HECTD4, HECW2, HEPACAM, HERC1, HERC2, HIVEP2, HIVEP3, HMGN1, HNRNPD, HNRNPF, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HNRNPUL2, HOMER1, HOXA1, HRAS, HS3ST5, HSD11B1, HTR1B, HTR3A, HUWE1, HYDIN, ICA1, IL1R2, IL1RAPL1, IL1RAPL2, ILF2, IMMP2L, INPP1, INTS1, INTS6, IQGAP3, IQSEC2, IRF2BPL, IRX5, ITGB3, ITPR1, ITSN1, JARID2, JMJD1C, KANK1, KANSL1, KAT2B, KAT6A, KAT6B, KATNAL1, KATNAL2, KCNB1, KCNC1, KCNC2, KCND2, KCND3, KCNH1, KCNJ10, KCNJ15, KCNK7, KCNMA1, KCNQ2, KCNQ3, KCNS3, KCTD13, KDM1B, KDM2B, KDM3B, KDM4B, KDM4C, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KHDRBS2, KIAA0232, KIAA1586, KIF13B, KIF14, KIF1A, KIF5C, KIRREL3, KLF16, KLHL20, KLF7, KMT2A, KMT2C, KMT2D, KMT2E, KMT5B, KPTN, KRR1, KRT26, LAMA1, LAMB1, LDB1, LEMD3, LEO1, LEP, LHX2, LILRB2, LIN7B, LMX1B, LNPK, LRBA, LRFN2, LRFN5, LRP1, LRP2, LRRC1, LRRC4, LRRC4C, LZTR1, LZTS2, MACF1, MACROD2, MAGEC3, MAGEL2, MAOA, MAOB, MAP1A, MAP1B, MAP4K4, MAPK3, MAPK8IP3, MAPT-AS1, MARK1, MARK2, MBD1, MBD3, MBD4, MBD5, MBD6, MBOAT7, MCM4, MCM6, MCPH1, MDGA2, MECP2, MED12L, MED13, MED13L, MED23, MEF2C, MEGF10, MEGF11, MEIS2, MEMO1, MET, METTL26, MFRP, MIB1, MKX, MLANA, MNT, MRTFB, MSANTD2, MSL3, MSR1, MSX2, MTF1, MTHFR, MTOR, MTSS2, MUC12, MUC4, MYCBP2, MYH10, MYH4, MYH9, MYO16, MYO1E, MYO5A, MYO5C, MYO9B, MYT1L, NAA10, NAA15, NAALADL2, NACC1, NAV2, NAV3, NBEA, NCKAP1, NCKAP5, NCOA1, NCOR1, NDUFA5, NEGR1, NEO1, NEXMIF, NF1, NFE2L3, NFIA, NFIB, NFIX, NINL, NIPA1, NIPA2, NIPBL, NLGN1, NLGN2, NLGN3, NLGN4X, NLGN4Y, NOTCH1, NOVA2, NPAS2, NR1D1, NR2F1, NR3C2, NR4A2, NRCAM, NRP2, NRXN1, NRXN2, NRXN3, NSD1, NSD2, NSMCE3, NTNG1, NTNG2, NTRK1, NTRK2, NTRK3, NUAK1, NUDCD2, NUP133, NUP155, NXPH1, OCRL, OFD1, OPHN1, OR1C1, OR2M4, OR2T10, OR52M1, OTUD7A, OTX1, OXT, OXTR, P2RX5, P4HA2, PABPC1, PACS1, PACS2, PAFAH1B2, PAH, PAK1, PAK2, PAPOLG, PARD3B, PATJ, PAX5, PAX6, PBX1, PCCA, PCCB, PCDH10, PCDH11X, PCDH15, PCDH19, PCDH9, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2, PCLO, PCM1, PDCD1, PDE1C, PDK2, PDZD8, PER1, PER2, PEX7, PHB1, PHF12, PHF2, PHF21A, PHF3, PHF7, PHF8, PHIP, PHRF1, PIK3CG, PIK3R2, PITX1, PJA1, PLAUR, PLCB1, PLCD4, PLN, PLXNA3, PLXNA4, PLXNB1, PNPLA7, POGZ, POLA2, POLR2A, POLR3A, POMGNT1, POMT1, PON1, POT1, POU3F3, PPFIA1, PPFIA3, PPM1D, PPP1R1B, PPP1R9B, PPP2CA, PPP2R1B, PPP2R5C, PPP2R5D, PPP3CA, PPP5C, PREX1, PRICKLE1, PRICKLE2, PRKAR1B, PRKCA, PRKCB, PRKD1, PRKD2, PRKDC, PRKN, PRODH, PRPF39, PRPF8, PRR12, PRR14L, PRUNE2, PSD3, PSMD11, PSMD12, PSMD6, PTBP2, PTCH1, PTCHD1, PTCHD1-AS, PTEN, PTGS2, PTK7, PTPN11, PTPN4, PTPRB, PTPRC, PTPRD, PTPRT, PUF60, PXDN, PYHIN1, QRICH1, RAB11FIP5, RAB2A, RAB39B, RAB43, RAC1, RAD21, RAD21L1, RAI1, RALA, RALGAPB, RANBP17, RAPGEF4, RASSF5, RBBP5, RBFOX1, RBM27, REEP3, RELN, RERE, RFX3, RFX4, RFX7, RGS7, RHEB, RHOXF1, RIMS1, RIMS2, RIMS3, RIT2, RLIM, RNF135, RNF25, RNF38, ROBO2, RORA, RORB, RPL10, RPS6KA2, RPS6KA3, RSRC1, RUNX1T1, SACS, SAE1, SAMD11, SASH1, SATB1, SATB2, SBF1, SCAF1, SCAF4, SCFD2, SCN1A, SCN2A, SCN3A, SCN4A, SCN8A, SCN9A, SCP2, SDC2, SEMA5A, SERPINE1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SETDB1, SETDB2, SEZ6L2, SF3B1, SGSH, SGSM3, SH3RF3, SHANK1, SHANK2, SHANK3, SHOX, SIK1, SIN3A, SIN3B, SKI, SLC12A5, SLC1A1, SLC22A15, SLC22A9, SLC24A2, SLC25A12, SLC25A27, SLC25A39, SLC27A4, SLC29A4, SLC35B1, SLC35G1, SLC38A10, SLC45A1, SLC4A10, SLC6A1, SLC6A3, SLC6A4, SLC6A8, SLC7A3, SLC7A5, SLC7A7, SLC9A1, SLC9A6, SLC9A9, SLCO1B3, SLITRK2, SLITRK5, SMAD4, SMAP2, SMARCA2, SMARCA4, SMARCC2, SMC1A, SMC3, SMG6, SMURF1, SNAP25, SND1, SNTG2, SNX14, SNX5, SOD1, SON, SORCS3, SOS2, SOX5, SOX6, SPARCL1, SPAST, SPEN, SPP2, SPRY2, SPTBN1, SRCAP, SRGAP3, SRPRA, SRRM2, SRSF1, SRSF11, SSRP1, ST7, ST8SIA2, STAG1, STK39, STX1A, STXBP1, STXBP5, STYK1, SUPT16H, SYAP1, SYN1, SYN2, SYNCRIP, SYNE1, SYNGAP1, SYNJ1, SYT1, SYT17, TAF1, TAF1C, TAF4, TAF6, TANC2, TAOK1, TAOK2, TBC1D23, TBC1D31, TBC1D5, TBCEL, TBCK, TBL1X, TBL1XR1, TBR1, TBX1, TCEAL1, TCF20, TCF4, TCF7L2, TDO2, TECTA, TEK, TERB2, TERF2, TET2, TET3, TFE3, THBS1, THRA, TLE3, TLK2, TM4SF19, TM4SF20, TM9SF4, TMEM39B, TMLHE, TNRC6B, TNRC6C, TOP2B, TOP3B, TPO, TRAF7, TRAPPC6B, TRAPPC9, TRIM23, TRIM33, TRIM8, TRIO, TRIP12, TRPC6, TRPM1, TRPM3, TRRAP, TSC1, TSC2, TSHZ1, TSHZ3, TSPAN17, TSPAN4, TSPAN7, TSPOAP1, TTI2, TTN, TUBGCP5, UBAP2L, UBE2H, UBE3A, UBE3C, UBN2, UBR1, UBR3, UBR5, UGGT1, UIMC1, UNC13A, UNC79, UNC80, UPF2, UPF3B, USH2A, USP15, USP45, USP7, USP9X, USP9Y, VAMP2, VASH1, VDR, VEZF1, VIL1, VPS13B, VSIG4, WAC, WASF1, WDFY3, WDFY4, WDR26, WDR5, WNK3, WNT1, WWOX, XPC, XPO1, YEATS2, YTHDC2, YWHAE, YWHAG, YY1, ZBTB16, ZBTB18, ZBTB20, ZBTB21, ZBTB7A, ZC3H11A, ZC3H4, ZFHX3, ZFHX4, ZFX, ZFYVE26, ZMIZ1, ZMYM2, ZMYM3, ZMYND11, ZMYND8, ZNF18, ZNF292, ZNF385B, ZNF462, ZNF517, ZNF548, ZNF559, ZNF626, ZNF711, ZNF713, ZNF774, ZNF804A, ZNF827, ZSWIM6, ZWILCH.
ABAT, ABCA10, ABCA13, ABCA7, ABCE1, ACAP2, ACE, ACHE, ACTB, ACTL6B, ACTN4, ACY1, ADA, ADCY3, ADCY5, ADGRL1, ADK, ADNP, ADORA2A, ADORA3, ADRB2, ADSL, ADSS2, AFF2, AGAP1, AGAP2, AGBL4, AGMO, AGO1, AGO2, AGO3, AGO4, AGTR2, AHDC1, AHI1, AHNAK, AKAP9, ALDH1A3, ALDH5A1, ALG6, AMPD1, AMT, ANK2, ANK3, ANKRD11, ANKRD17, ANKS1B, ANP32A, ANXA1, AP1S2, AP2M1, AP2S1, APBA2, APBB1, APH1A, AR, ARF3, ARHGAP11B, ARHGAP32, ARHGAP5, ARHGEF10, ARHGEF9, ARID1A, ARID1B, ARID2, ARNT2, ARX, ASAP2, ASB14, ASH1L, ASMT, ASPM, ASTN2, ASXL3, ATP10A, ATP1A1, ATP1A3, ATP2B1, ATP2B2, ATP6V0A2, ATP9A, ATRX, AUTS2, AVPR1A, AVPR1B, AZGP1, BAZ2B, BBS4, BCAS1, BCKDK, BCL11A, BCORL1, BICDL1, BICRA, BIRC6, BRAF, BRCA2, BRD4, BRSK2, BRWD3, BST1, BTAF1, BTRC, C12orf57, C15orf62, C4B, CA6, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I, CACNA2D1, CACNA2D3, CACNB2, CACNG2, CADM1, CADM2, CADPS, CADPS2, CAMK2A, CAMK2B, CAMK2D, CAMK4, CAMTA2, CAPN12, CAPRIN1, CARD11, CASK, CASKIN1, CASZ1, CBX1, CC2D1A, CCDC88C, CCDC91, CCIN, CCNG1, CCNK, CCSER1, CCT4, CD276, CD38, CD99L2, CDC42BPB, CDH10, CDH11, CDH13, CDH2, CDH22, CDH8, CDH9, CDK13, CDK16, CDK19, CDK8, CDK5RAP2, CDKL5, CECR2, CELF2, CELF4, CELF6, CEP135, CEP290, CEP41, CERT1, CGNL1, CHAMP1, CHD1, CHD2, CHD3, CHD4, CHD7, CHD8, CHKB, CHMP1A, CHRM3, CHRNA7, CHRNB3, CIB2, CIC, CLASP1, CLCN4, CLN8, CLTCL1, CMIP, CMPK2, CNGB3, CNKSR2, CNOT1, CNOT3, CNR1, CNTN3, CNTN4, CNTN5, CNTN6, CNTNAP2, CNTNAP3, CNTNAP4, CNTNAP5, COL28A1, CORO1A, CPEB4, CPSF7, CPT2, CPZ, CREBBP, CSDE1, CSMD1, CSNK1E, CSNK1G1, CSNK2A1, CSNK2B, CTCF, CTNNA2, CTNNA3, CTNNB1, CTNND1, CTNND2, CTR9, CTTNBP2, CUL3, CUL4B, CUL7, CUX1, CUX2, CX3CR1, CYFIP1, CYLC2, CYP11B1, CYP27A1, DAGLA, DAPP1, DCC, DDC, DDHD2, DDX23, DDX3X, DDX53, DEAF1, DENND2B, DENR, DEPDC5, DHCR7, DHX30, DHX9, DIP2A, DIP2C, DIPK2A, DISC1, DIXDC1, DLG1, DLG2, DLG4, DLGAP1, DLGAP2, DLGAP3, DLL1, DLX2, DLX3, DLX6, DMD, DMPK, DMWD, DMXL2, DNAH10, DNAH17, DNAH3, DNER, DNMT3A, DOCK1, DOCK4, DOCK8, DOLK, DOT1L, DPP10, DPP3, DPP4, DPP6, DPYD, DPYSL2, DPYSL3, DRD1, DRD2, DRD3, DSCAM, DST, DUSP15, DVL3, DYDC1, DYDC2, DYNC1H1, DYRK1A, EBF3, ECPAS, EEF1A2, EFR3A, EGR3, EHMT1, EIF3G, EIF4E, ELAVL2, ELAVL3, ELOVL2, ELP2, ELP4, EMSY, EN2, EP300, EP400, EPC2, EPHA1, EPHB2, EPPK1, ERBIN, ERG, ERMN, ESR2, ESRRB, ETFB, EXOC3, EXOC5, EXOC6, EXOC6B, EXT1, FABP5, FAM47A, FAM98C, FAN1, FAT1, FBN1, FBRSL1, FBXO11, FBXO33, FBXO40, FCRL6, FEZF2, FGA, FGF13, FGFR1, FHIT, FMR1, FOXG1, FOXP1, FOXP2, FRG1, FRK, FRMD5, FRMPD4, FRYL, G3BP2, GABBR2, GABRA3, GABRA4, GABRB2, GABRB3, GABRG3, GALNT10, GALNT13, GALNT14, GALNT2, GALNT8, GAS2, GATM, GBE1, GDA, GFAP, GGNBP2, GIGYF1, GIGYF2, GLIS1, GLO1, GLRA2, GNAI1, GNAS, GNB1L, GNB2, GPC4, GPC6, GPD2, GPHN, GPR37, GPR85, GPX1, GRIA1, GRIA2, GRIA3, GRID1, GRID2, GRID2IP, GRIK2, GRIK3, GRIK4, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIP1, GRK4, GRM5, GRM7, GSTM1, GTF2I, GUCY1A2, H1-4, H2BC11, H3-3B, H4C11, H4C3, H4C5, HCFC1, HCN1, HDAC4, HDAC8, HDLBP, HECTD4, HECW2, HEPACAM, HERC1, HERC2, HIVEP2, HIVEP3, HMGN1, HNRNPD, HNRNPF, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HNRNPUL2, HOMER1, HOXA1, HRAS, HS3ST5, HSD11B1, HTR1B, HTR3A, HUWE1, HYDIN, ICA1, IL1R2, IL1RAPL1, IL1RAPL2, ILF2, IMMP2L, INPP1, INTS1, INTS6, IQGAP3, IQSEC2, IRF2BPL, IRX5, ITGB3, ITPR1, ITSN1, JARID2, JMJD1C, KANK1, KANSL1, KAT2B, KAT6A, KAT6B, KATNAL1, KATNAL2, KCNB1, KCNC1, KCNC2, KCND2, KCND3, KCNH1, KCNJ10, KCNJ15, KCNK7, KCNMA1, KCNQ2, KCNQ3, KCNS3, KCTD13, KDM1B, KDM2B, KDM3B, KDM4B, KDM4C, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KHDRBS2, KIAA0232, KIAA1586, KIF13B, KIF14, KIF1A, KIF5C, KIRREL3, KLF16, KLHL20, KLF7, KMT2A, KMT2C, KMT2D, KMT2E, KMT5B, KPTN, KRR1, KRT26, LAMA1, LAMB1, LDB1, LEMD3, LEO1, LEP, LHX2, LILRB2, LIN7B, LMX1B, LNPK, LRBA, LRFN2, LRFN5, LRP1, LRP2, LRRC1, LRRC4, LRRC4C, LZTR1, LZTS2, MACF1, MACROD2, MAGEC3, MAGEL2, MAOA, MAOB, MAP1A, MAP1B, MAP4K4, MAPK3, MAPK8IP3, MAPT-AS1, MARK1, MARK2, MBD1, MBD3, MBD4, MBD5, MBD6, MBOAT7, MCM4, MCM6, MCPH1, MDGA2, MECP2, MED12L, MED13, MED13L, MED23, MEF2C, MEGF10, MEGF11, MEIS2, MEMO1, MET, METTL26, MFRP, MIB1, MKX, MLANA, MNT, MRTFB, MSANTD2, MSL3, MSR1, MSX2, MTF1, MTHFR, MTOR, MTSS2, MUC12, MUC4, MYCBP2, MYH10, MYH4, MYH9, MYO16, MYO1E, MYO5A, MYO5C, MYO9B, MYT1L, NAA10, NAA15, NAALADL2, NACC1, NAV2, NAV3, NBEA, NCKAP1, NCKAP5, NCOA1, NCOR1, NDUFA5, NEGR1, NEO1, NEXMIF, NF1, NFE2L3, NFIA, NFIB, NFIX, NINL, NIPA1, NIPA2, NIPBL, NLGN1, NLGN2, NLGN3, NLGN4X, NLGN4Y, NOTCH1, NOVA2, NPAS2, NR1D1, NR2F1, NR3C2, NR4A2, NRCAM, NRP2, NRXN1, NRXN2, NRXN3, NSD1, NSD2, NSMCE3, NTNG1, NTNG2, NTRK1, NTRK2, NTRK3, NUAK1, NUDCD2, NUP133, NUP155, NXPH1, OCRL, OFD1, OPHN1, OR1C1, OR2M4, OR2T10, OR52M1, OTUD7A, OTX1, OXT, OXTR, P2RX5, P4HA2, PABPC1, PACS1, PACS2, PAFAH1B2, PAH, PAK1, PAK2, PAPOLG, PARD3B, PATJ, PAX5, PAX6, PBX1, PCCA, PCCB, PCDH10, PCDH11X, PCDH15, PCDH19, PCDH9, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2, PCLO, PCM1, PDCD1, PDE1C, PDK2, PDZD8, PER1, PER2, PEX7, PHB1, PHF12, PHF2, PHF21A, PHF3, PHF7, PHF8, PHIP, PHRF1, PIK3CG, PIK3R2, PITX1, PJA1, PLAUR, PLCB1, PLCD4, PLN, PLXNA3, PLXNA4, PLXNB1, PNPLA7, POGZ, POLA2, POLR2A, POLR3A, POMGNT1, POMT1, PON1, POT1, POU3F3, PPFIA1, PPFIA3, PPM1D, PPP1R1B, PPP1R9B, PPP2CA, PPP2R1B, PPP2R5C, PPP2R5D, PPP3CA, PPP5C, PREX1, PRICKLE1, PRICKLE2, PRKAR1B, PRKCA, PRKCB, PRKD1, PRKD2, PRKDC, PRKN, PRODH, PRPF39, PRPF8, PRR12, PRR14L, PRUNE2, PSD3, PSMD11, PSMD12, PSMD6, PTBP2, PTCH1, PTCHD1, PTCHD1-AS, PTEN, PTGS2, PTK7, PTPN11, PTPN4, PTPRB, PTPRC, PTPRD, PTPRT, PUF60, PXDN, PYHIN1, QRICH1, RAB11FIP5, RAB2A, RAB39B, RAB43, RAC1, RAD21, RAD21L1, RAI1, RALA, RALGAPB, RANBP17, RAPGEF4, RASSF5, RBBP5, RBFOX1, RBM27, REEP3, RELN, RERE, RFX3, RFX4, RFX7, RGS7, RHEB, RHOXF1, RIMS1, RIMS2, RIMS3, RIT2, RLIM, RNF135, RNF25, RNF38, ROBO2, RORA, RORB, RPL10, RPS6KA2, RPS6KA3, RSRC1, RUNX1T1, SACS, SAE1, SAMD11, SASH1, SATB1, SATB2, SBF1, SCAF1, SCAF4, SCFD2, SCN1A, SCN2A, SCN3A, SCN4A, SCN8A, SCN9A, SCP2, SDC2, SEMA5A, SERPINE1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SETDB1, SETDB2, SEZ6L2, SF3B1, SGSH, SGSM3, SH3RF3, SHANK1, SHANK2, SHANK3, SHOX, SIK1, SIN3A, SIN3B, SKI, SLC12A5, SLC1A1, SLC22A15, SLC22A9, SLC24A2, SLC25A12, SLC25A27, SLC25A39, SLC27A4, SLC29A4, SLC35B1, SLC35G1, SLC38A10, SLC45A1, SLC4A10, SLC6A1, SLC6A3, SLC6A4, SLC6A8, SLC7A3, SLC7A5, SLC7A7, SLC9A1, SLC9A6, SLC9A9, SLCO1B3, SLITRK2, SLITRK5, SMAD4, SMAP2, SMARCA2, SMARCA4, SMARCC2, SMC1A, SMC3, SMG6, SMURF1, SNAP25, SND1, SNTG2, SNX14, SNX5, SOD1, SON, SORCS3, SOS2, SOX5, SOX6, SPARCL1, SPAST, SPEN, SPP2, SPRY2, SPTBN1, SRCAP, SRGAP3, SRPRA, SRRM2, SRSF1, SRSF11, SSRP1, ST7, ST8SIA2, STAG1, STK39, STX1A, STXBP1, STXBP5, STYK1, SUPT16H, SYAP1, SYN1, SYN2, SYNCRIP, SYNE1, SYNGAP1, SYNJ1, SYT1, SYT17, TAF1, TAF1C, TAF4, TAF6, TANC2, TAOK1, TAOK2, TBC1D23, TBC1D31, TBC1D5, TBCEL, TBCK, TBL1X, TBL1XR1, TBR1, TBX1, TCEAL1, TCF20, TCF4, TCF7L2, TDO2, TECTA, TEK, TERB2, TERF2, TET2, TET3, TFE3, THBS1, THRA, TLE3, TLK2, TM4SF19, TM4SF20, TM9SF4, TMEM39B, TMLHE, TNRC6B, TNRC6C, TOP2B, TOP3B, TPO, TRAF7, TRAPPC6B, TRAPPC9, TRIM23, TRIM33, TRIM8, TRIO, TRIP12, TRPC6, TRPM1, TRPM3, TRRAP, TSC1, TSC2, TSHZ1, TSHZ3, TSPAN17, TSPAN4, TSPAN7, TSPOAP1, TTI2, TTN, TUBGCP5, UBAP2L, UBE2H, UBE3A, UBE3C, UBN2, UBR1, UBR3, UBR5, UGGT1, UIMC1, UNC13A, UNC79, UNC80, UPF2, UPF3B, USH2A, USP15, USP45, USP7, USP9X, USP9Y, VAMP2, VASH1, VDR, VEZF1, VIL1, VPS13B, VSIG4, WAC, WASF1, WDFY3, WDFY4, WDR26, WDR5, WNK3, WNT1, WWOX, XPC, XPO1, YEATS2, YTHDC2, YWHAE, YWHAG, YY1, ZBTB16, ZBTB18, ZBTB20, ZBTB21, ZBTB7A, ZC3H11A, ZC3H4, ZFHX3, ZFHX4, ZFX, ZFYVE26, ZMIZ1, ZMYM2, ZMYM3, ZMYND11, ZMYND8, ZNF18, ZNF292, ZNF385B, ZNF462, ZNF517, ZNF548, ZNF559, ZNF626, ZNF711, ZNF713, ZNF774, ZNF804A, ZNF827, ZSWIM6, ZWILCH.
FMR1.
15q11.
15q11.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Ataxia I: 4 studies

Ataxia is a motor disorder characterized by a diminished ability to coordinate movements, manifesting as tremors in parts of the body during voluntary movements, difficulty performing precise movements, or difficulty maintaining balance. We offer a targeted exome analysis that examines the genes associated with the main types of ataxia, including episodic ataxia and spinocerebellar ataxia with or without axonal neuropathy, among others. In addition, we offer specific tests for expansion-related ataxias, including Friedreich’s ataxia, the most common type of hereditary ataxia.

AARS1, AARS2, AASS, ABAT, ABCB6, ABCB7, ABCC9, ABCD1, ABHD12, ABHD5, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACSL4, ACTA1, ACTN2, ADCY6, ADGRG6, ADPRS, ADSS1, AFG3L2, AGK, AGL, AGRN, AGTPBP1, AGXT, AIFM1, AK2, AK9, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALG14, ALG2, ALG3, ALPK1, ALS2, AMACR, AMPD1, AMPD3, AMT, ANG, ANO5, ANXA11, AP3B2, APOO, APTX, AR, ARHGEF10, ARL6IP1, ARMS2, ARNT2, ARPP21, ASAH1, ASCC1, ASCC3, ASS1, ATAD3A, ATG7, ATIC, ATL1, ATL3, ATP1A1, ATP2A1, ATP2A2, ATP5F1A, ATP5F1D, ATP5F1E, ATP5MK, ATP7A, ATP7B, ATPAF2, ATXN2, AUH, B3GALNT2, B3GNT2, B4GAT1, BAG3, BAX, BCKDHA, BCKDHB, BCKDK, BCL2, BCS1L, BET1, BICD2, BIN1, BLOC1S1, BOLA3, BORCS8, BSCL2, BTD, BVES, C19orf12, C1QBP, CA5A, CACNA1A, CACNA1H, CACNA1S, CADM3, CAPN1, CAPN3, CARS2, CASP8, CASQ1, CAT, CAV3, CAVIN1, CCDC174, CCDC78, CCNF, CCT5, CFAP276, CFAP410, CFL2, CHAT, CHCHD10, CHD8, CHKB, CHMP2B, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CIAO1, CISD2, CLCN1, CLN3, CLPB, CLPP, CNTN1, CNTNAP1, COA3, COA5, COA6, COA7, COA8, COASY, COL12A1, COL13A1, COL25A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10 , COX14, COX15, COX16, COX18, COX20, COX4I2, COX6A1, COX6A2, COX6B1, COX7B, COX8A, CPOX, CPS1, CPT1A, CPT1C, CPT2, CRPPA, CRYAB, CTDP1, CYB5A, CYB5R3, CYBB, CYC1, CYCS, CYLD, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DAG1, DAO, DARS2, DBT, DCAF8, DCTN1, DCTN2, DES, DGAT2, DGUOK, DHODH, DHTKD1, DHX9, DIABLO, DLAT, DLD, DMD, DMGDH, DMP1, DMXL2, DNA2, DNAJB2, DNAJB4, DNAJB6, DNAJC19, DNAJC30, DNM1L, DNM2, DNMT1, DNMT3B, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DRP2, DST, DTNA, DUX4, DYNC1H1, DYSF, EARS2, ECEL1, ECHS1, EGR2, EHHADH, ELAC2, ELP1, EMD, EMILIN1, ENDOG, ENO3, EPG5, EPHA4, EPRS1, ERBB3, ERBB4, ERLIN2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXOSC8, EXOSC9, FARS2, FASTKD2, FBLN5, FBXL4, FBXO38, FDX2, FDXR, FECH, FGD4, FGFR1, FH, FHL1, FIG4, FKRP, FKTN, FLAD1, FLNC, FLRT1, FOXRED1, FUS, FXR1, GAA, GAN, GARS1, GATM, GBE1, GBF1, GCDH, GCK, GCSH, GDAP1, GFER, GFM1, GFM2, GFPT1, GGPS1, GIPC1, GJB1, GJB3, GK, GLDC, GLDN, GLE1, GLRX5, GLT8D1, GLUD1, GLYCTK, GMPPB, GNB4, GNE, GOLGA2, GOSR2, GP1BA, GPD2, GPT2, GPX1, GRN, GSN, GSR, GTPBP3, GYG1, GYS1, HACD1, HADH, HADHA, HADHB, HARS1, HARS2, HAX1, HCCS, HESX1, HEXB, HIBCH, HIKESHI, HINT1, HK1, HLCS, HMGCL, HMGCR, HMGCS1, HMGCS2, HNRNPA1, HNRNPA2B1, HNRNPDL, HOGA1, HRAS, HSD17B10, HSD3B2, HSPA9, HSPB1, HSPB3, HSPB8, HSPD1, HSPG2, HTRA2, IARS2, IBA57, IDH2, IDH3B, IGHMBP2, INF2, INPP5K, ISCA2, ISCU, ITGA7, ITPR3, IVD, JAG1, JAG2, JPH1, KARS1, KBTBD13, KCNA1, KCNE3, KCNJ18, KCNJ2, KCNJ5, KIF1A, KIF1B, KIF26B, KIF5A, KLC2, KLHL24, KLHL40, KLHL41, KLHL9, KY, L2HGDH, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LARS2, LAS1L, LDB3, LDHA, LETM1, LGI4, LHX2, LIAS, LIG3, LIMS2, LIPT1, LIPT2, LITAF, LMNA, LMOD3, LONP1, LPIN1, LRIF1, LRP10, LRP12, LRP4, LRPPRC, LRRC8C, LRSAM1, LYRM4, LYRM7, MACF1, MAG, MAMLD1, MAOA, MAP3K20, MAPT, MARS1, MARS2, MATR3, MB, MCAT, MCCC1, MCCC2, MCEE, MCM3AP, MCOLN1, MDH2, MECR, MEGF10, MFF, MFN2, MGME1, MICOS13, MICU1, MIEF1, MIPEP, MLIP, MLYCD, MMAA, MMAB, MMACHC, MME, MMUT, MOBP, MOCS1, MORC2, MPC1, MPDU1, MPV17, MPZ, MRM2, MRPL3, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS25, MRPS34, MRPS7, MSRB3, MSTO1, MTFMT, MTHFD1, MTM1, MTMR14, MTMR2, MTPAP, MTRFR, MTRR, MUSK, MUTYH, MYBPC1, MYBPC3, MYF6, MYH1, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOD1, MYOT, MYPN, NADK2, NAGLU, NAGS, NAIP, NARS2, NBAS, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NEFH, NEFL, NEK1, NEK9, NFU1, NGF, NNT, NOTCH2NLC, NR2F1, NTHL1, NTRK1, NUBPL, OAT, OBSCN, OGDH, OGG1, OPA1, OPA3, OPTN, ORAI1, OTC, OTX2, OXCT1, PAM16, PANK2, PARK7, PARS2, PAX7, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PDXK, PET100, PFKM, PFN1, PGAM2, PGK1, PGM1, PHB1, PHKA1, PHKA2, PHKG1, PHKG2, PHYH, PIEZO2, PIGG, PINK1, PIP5K1C, PLEC, PLEKHG5, PLIN4, PMM2, PMP2, PMP22, PNKD, PNKP, PNPLA2, PNPLA8, PNPT1, POC5, POGLUT1, POLG, POLG2, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON1, PON2, PON3, POPDC3, PPARGC1A, PPIB, PPM1K, PPOX, PRDM12, PREPL, PRICKLE3, PRKAG2, PRODH, PROKR2, PRPH, PRPS1, PRUNE1, PRX, PSAT1, PTCD3, PTRH2, PTS, PURA, PUS1, PYCR1, PYCR2, PYGM, PYROXD1, QDPR, RAB7A, RANBP2, RAPSN, RARS2, RBCK1, RBM7, REEP1, RETREG1, RMND1, RNASEH1, RNASEL, RPH3A, RRM2B, RTN2, RTN4IP1, RXYLT1, RYR1, RYR3, SACS, SARDH, SARS1, SARS2, SBF1, SBF2, SCFD1, SCN10A, SCN11A, SCN4A, SCN9A, SCO1, SCO2, SCP2, SCYL1, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SELENON, SEPTIN9, SERAC1, SETX, SFXN4, SGCA, SGCB, SGCD, SGCG, SGPL1, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC16A1, SLC18A3, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC44A1, SLC52A1, SLC52A2, SLC52A3, SLC5A7, SMCHD1, SMN1, SMN2, SMPX, SNAP25, SNF8, SNUPN, SOD1, SOD2, SORD, SOX2, SOX3, SOX8, SPART, SPAST, SPEG, SPG11, SPG7, SPTAN1, SPTBN4, SPTLC1, SPTLC2, SQSTM1, SRPK3, SSBP1, STAC3, STAR, STIM1, SUCLA2, SUCLG1, SUGCT, SUN1, SUN2, SUOX, SURF1, SYNE1, SYNE2, SYT15, SYT2, TACO1, TAF15, TAFAZZIN, TAMM41, TANGO2, TARDBP, TARS2, TBCD, TBCE, TBK1, TCAP, TCIRG1, TECPR2, TFAM, TFG, TIA1, TIMM22, TIMM44, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM43, TMEM65, TMEM70, TMLHE, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOP3A, TOR1AIP1, TPK1, TPM2, TPM3, TPP1, TRAPPC11, TRAPPC2L, TREM2, TRIM32, TRIM54, TRIM63, TRIP4, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TRPA1, TRPM7, TRPV4, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTN, TTR, TUBA4A, TUBB3, TUFM, TWNK, TXN2, TXNRD2, TYMP, UBA1, UBQLN2, UCHL1, UCP1, UCP3, UNC13A, UNC45B, UNG, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRFS1, UQCRQ, UROS, VAMP1, VAPB, VARS2, VCP, VMA21, VRK1, VWA1, WARS1, WARS2, WDR81, WFS1, WNK1, WWTR1, XPNPEP3, XK, YARS1, YARS2, YME1L1, ZBTB42, ZC4H2, ZFHX2.
Expansion-related ataxia
ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, PPP2R2B, TBP.
FXN.
FMR1.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Central Nervous System Malformations I: 4 Studies

Malformations of the central nervous system (CNS) comprise a heterogeneous group of structural abnormalities that arise during the embryonic development of the brain and spinal cord. These anomalies can affect key processes such as neuronal proliferation, migration, cortical organization, and midline formation, manifesting clinically as developmental delay, epilepsy, intellectual disability, motor disorders, or abnormalities in head circumference. We offer targeted exome sequencing for the diagnosis of various CNS malformations.
Disorders of cortical development and neuronal migration
ACTB, ACTG1, ACTL6B, ADGRG1, ADGRL1, AHI1, AKT1, AKT3, ANKLE2, AP4E1, AP4M1, AP4S1, APC2, ARF1, ARFGEF2, ARHGAP31, ARL13B, ARMC9, ARX, ASNS, ASPM, ATP1A2, ATP1A3, ATP6V0A2, ATR, ATRX, B3GALNT2, B4GAT1, BICD2, BRWD3, BUB1, C2CD3, CAMSAP1, CASK, CASP2, CC2D2A, CCND2, CDC6, CDH2, CDK13, CDK5, CDK6, CDT1, CENPE, CENPF, CEP135, CEP152, CEP63, CEP85L, CHD8, CHMP1A, CIT, CKAP2L, CNTNAP2, COL18A1, COL3A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COPB2, CRADD, CRB2, CRIPT, CRPPA, CSMD1, CSNK2A1, CTNNA2, CUL4B, DAG1, DCHS1, DCX, DDX11, DDX3X, DEPDC5, DNA2, DNMT3A, DOCK6, DONSON, DPYSL5, DYNC1H1, EED, EML1, EMX2, EOGT, EOMES, EPG5, ERMARD, EZH2, FAT4, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FLNB, FLVCR2, GMPPB, GPC3, GPSM2, GRIN1, GRIN2B, H3-3A, HECTD4, HERC1, HNRNPK, HSD17B4, IBA57, IER3IP1, INTS8, KANSL1, KAT6B, KAT8, KATNB1, KIF11, KIF14, KIF26A, KIF2A, KIF5C, KIF7, KIFBP, KLHL7, KNL1, L1CAM, LAMA2, LAMB1, LAMC3, LARGE1, LMNA, LMNB1, LMNB2, LRP2, MACF1, MAN2C1, MAP1B, MAPK8IP3, MAST1, MCPH1, MED12, MED17, MED25, MFSD2A, MLYCD, MN1, MPDZ, MTOR, NCAPD2, NCAPD3, NCAPH, NDE1, NEDD4L, NFIA, NFIX, NIN, NOTCH1, NPRL2, NPRL3, NSDHL, NSMCE2, NSRP1, NUP37, OCLN, OFD1, OSGEP, PAFAH1B1, PCNT, PDCD6IP, PDHA1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHC1, PHGDH, PI4KA, PIDD1, PIK3CA, PIK3R2, PLK4, PNKP, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP1CB, PPP1R12A, PPP2R5D, PQBP1, PRKDC, PRORP, PRUNE1, PTCH1, PTEN, QARS1, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAC3, RAI1, RBBP8, RBPJ, RELN, RIN2, RRP7A, RTTN, RXYLT1, SASS6, SCN3A, SELENON, SETD2, SF3B4, SHMT2, SHOC2, SLC25A19, SLC35A2, SMO, SNAP29, SON, SOX11, SOX9, SRD5A3, SRPX2, STIL, STRADA, SUFU, TBC1D20, TBC1D24, TBC1D32, TBC1D7, TCP1, TCTN1, TMEM216, TMTC3, TMX2, TP73, TRAIP, TRAPPC14, TSC1, TSC2, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUBGCP2, TUBGCP4, USP18, VLDLR, VPS13B, VPS35L, VPS50, WDFY3, WDR4, WDR62, WNK3, YWHAE, ZMIZ1, ZNF292, ZNF335, ZSWIM6.
Midline and commissure malformations
AHI1, AMPD2, ANKK1, ANKRD11, ANOS1, APP, ARHGAP6, ARHGEF7, ARID1A, ARID1B, ARID3B, ARX, ASPM, ATP11A, ATR, ATRX, B9D1, B9D2, BCOR, BMP4, C12ORF57, CASK, CC2D2A, CDC42, CDK10, CDK5RAP2, CENPJ, CEP152, CEP290, CEP63, CFAP74, CNTNAP5, COL4A1, COL4A2, COMT, CPLX3, CREB1, CRPPA, CTBP1, CYP11A1, DCC, DCX, DHCR7, DIS3L2, DISC1, DPH1, DYRK1A, EARS2, EFNB1, EHMT1, EP300, EPG5, EPHA4, EPHB2, FGF8, FGFR1, FGFR2, FGFR3, FKRP, FKTN, FLNA, FOXC1, FOXF2, FOXG1, FOXQ1, GABRD, GLI2, GLI3, GNRH1, GNRHR, GPSM2, HCCS, HECTD4, HESX1, HS6ST1, HYLS1, IGBP1, IGF1, KAT6B, KDM5B, KIAA0586, KIF7, KISS1, KISS1R, L1CAM, LARGE1, LRP2, MECP2, MED12, MID1, MKS1, MN1, NCAM1, NDE1, NFIA, NFIX, NIN, NPHP3, NSD1, NSMF, NUFIP1, OFD1, OTX2, PAFAH1B1, PAX6, PCDH17, PCDH8, PDHA1, PDHB, PEX1, PIGG, POMGNT1, POMGNT2, POMT1, POMT2, PPP2R1A, PRKCZ, PYCR1, RAB18, RAB3GAP1, RAB3GAP2, RANBP1, RBBP8, RBM10, RELN, RPGRIP1L, SATB2, SCYL2, SEC31A, SEMA7A, SIN3A, SKI, SLC12A6, SMARCB1, SMARCE1, SOX1, SOX2, SPG11, STRA6, TAC3, TACR3, TCF4, TCTN2, TMEM216, TMEM52, TMEM67, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, UFD1, USP34, VAX1, WDR11, WDR62, YWHAE, ZBTB18, ZEB2, ZIC1, ZIC2, ZIC5.
CDON, CENPF, CNOT1, CRIPTO, DHCR7, DISP1, DLL1, FGF8, FGFR1, FOXH1, GAS1, GLI2, GLI3, HS2ST1, KMT2D, NODAL, PLCH1, PPP1R12A, PRDM15, PTCH1, RAD21, SHH, SIX3, SMC1A, SMC3, STAG2, STIL, SUFU, TBC1D32, TGIF1, ZIC2, ZRSR2.
Malformations of the cerebellum and brainstem
AGTPBP1, AMPD2, ATAD3A, CASK, CDC40, CHMP1A, CLP1, COASY, CRPPA, DKC1, EXOSC1, EXOSC3, EXOSC8, EXOSC9, FKRP, FKTN, ITPR1, LARGE1, MINPP1, PCLO, PMM2, POMGNT1, POMT1, POMT2, PPIL1, PRDM13, RARS2, RELN, SEPSECS, SLC25A46, TBC1D23, TOE1, TSEN15, TSEN2, TSEN34, TSEN54, TUBA1A, TUBB, TUBB2B, TUBB3, VLDLR, VPS51, VPS53, VRK1.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Neurocutaneous syndromes I: 3 studies

Neurocutaneous syndromes constitute a group of genetic disorders characterized by combined involvement of the nervous system and the skin, reflecting abnormalities in molecular pathways involved in embryonic development and the regulation of cell growth. Their clinical presentation is variable and includes neurological manifestations (epilepsy, CNS tumors, neurodevelopmental disorders) and characteristic skin lesions that can guide the diagnosis. We offer targeted genetic testing for the evaluation of neurocutaneous syndromes in the field of pediatric neurology, including conditions such as neurofibromatosis and tuberous sclerosis.
AKT1, BRAF, GNAS, HRAS, KIT, KITLG, KRAS, LZTR1, MAP2K1, MAP2K2, MLH1, MSH2, MSH6, NF1, NRAS, PDGFRB, PTPN11, RAF1, RIT1, SMARCB1, SNAI2, SOS1, SPRED1.
ALG5, ALG9, CDC73, CYLD, DEPDC5, DICER1, DNAJB11, FLCN, FLNA, GANAB, IFT140, MTOR, NPRL2, NPRL3, PDGFB, PDGFRB, PKD1, PKD2, PTEN, RHEB, SLC20A2, TREX1, VHL, XPR1.
ACTA2, ACVRL1, ADA2, AKT1, ANGPTL6, ANO1, ATM, ATR, CBL, CCER2, CCND1, CCM2, CEP152, CHD4, CNOT3, COL3A1, COL4A1, COL4A2, COL5A1, CTSA, DIAPH1, ELMO2, ENG, EPHB4, FLVCR2, FOXM1, GDF2, GLMN, GNA11, GUCY1A1, HBB, HTRA1, IRAG1, ITGB1, KEL, KRIT1, MYH11, NF1, NOS3, NOTCH3, PCNT, PDCD10, PIK3CA, PKD1, PKD2, PTEN, RASA1, RNF213, SAMHD1, SETD5, SLC2A10, SMAD4, SMAD9, SOX18, STAMBP, TEK, THSD1, VHL, YY1AP1.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days