Panel Name, Specifity and genes Tested/covered |
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories in United States.
BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)
View the complete list with 617 more genes
BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513, AIPL1, YARS2, ALDOA, ALDOB, USH1G, FBP1, PC, GYS2, USH1C, UQCRQ, ARG1, ANKH, UQCRB, HLCS, TYROBP, ATP5F1E, FKBP10, ATP7A, BTD, ATP7B, ATP8B1, ATPAF2, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, FOXL2, INVS, OPN1MW, HNF1A, HBB, OPN1LW, NEUROD1, SPATA7, MMACHC, RAX, TYRP1, FBLN5, EYA1, PPARG, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, STAR, STAT1, PRKCG, OCA2, VSX1, SLC34A1, APP, SOST, AMN, SLC45A2, WT1, PAX6, TGFB1, ZEB1, ELAC2, TLR4, CHM, RB1, PSEN1, RILP, TGFBI, PITX3, TUBB3, SDHAF2, LEMD3, HNF1B, MTR, RET, MC1R, TYR, ELN, SLC37A4, PDZD7, EYA4, RP1, OPTN, GPR143, TNFRSF11A, INPP5E, ABCA12, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, KRT5, ABCB6, TRMU, CASP8, PYCR1, CLCN7, DTNBP1, WFS1, COMT, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, FOXC1, ELOVL4, PITX2, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, HPRT1, NHS, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, SHH, ME2, PRPH2, DSP, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, CYP11B1, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, CRYAB, SDHC, PANK2, HADHA, RAF1, OPA3, FH, VCP, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, SMPD1, MECP2, CYP11B2, FBN1, SLC26A4, WHRN, MTO1, CDH23, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, DDOST, HARS, C8orf37, LIAS, NDUFB3, GPD1, NDUFA9, COX14, AGK, ALDH18A1, GOT1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, GPX1, DIABLO, LDHB, PDHB, ALDH6A1, CAT, HP, BLOC1S3, HPS6, HPS5, HPS4, HPS3, ACAT2, TMEM70, HAGH, PRPF6, SERPINF1, MERTK, DHDDS, SP7, SARS2, SLC24A1, GUCA1B, PDE6A, CCDC39, RGR, CNGB1, NFU1, RS1, PHKA2, FAH, PCK2, NDUFAF1, HMGCL, CCDC28B, HSD3B2, TTC19, GNAT2, MSRB3, MTPAP, XPNPEP3, FYCO1, FAM161A, TAT, NDUFA10, NUBPL, PYGL, G6PC, CYP24A1, CNGA1, NRL, CYP11A1, SCP2, CDHR1, IDH2, KARS, SPTLC2, RP1L1, PDE6G, IMPG2, GPI, GCKR, PCARE, GRK1, LRAT, CAVIN1, TSPAN12, TRPM1, ABAT, PDE6C, GFER, PHKG2, TLR3, TMEM126A, SLC25A12, KLHL7, DPM3, PGM1, LDHA, ENO3, ADAM9, GAMT, GATM, SPR, COX4I2, RDH12, SOD2, AK1, RPL35A, PLOD3, SDHB, SLC39A13, SLC9A3R1, STXBP1, SUCLA2, COQ8A, RFT1, CYCS, MRPS22, TUBA1A, GYS1, RARS2, ACAD8, COG1, COG8, DARS2, TUSC3, P3H1, SLC25A3, HAX1, PNPLA2, CRTAP, TUFM, RD3, PRCD, TSFM, MRPS16, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, HTRA2, SEMA4A, ALDH2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TOPORS, SECISBP2, TK2, SLC25A22, IQCB1, PLOD2, MPDU1, GFM1, FLVCR1, HADHB, DPM1, PDP1, COG7, ALG9, ATIC, ALG1, RGS9, CERKL, MEF2A, AP3B1, UNG, ALG8, FSCN2, ALG2, GRN, NDUFA13, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, C1QTNF5, CISD2, TAP1, LCA5, SCO2, RIMS1, SLC35A1, GAD1, ALG6, TYMP, EYS, MPI, ETHE1, GUCA1A, SQSTM1, PHOX2A, GJA3, UCP1, UCP3, PPARGC1B, RNASEL, MYO7A, STRA6, ALG3, PITPNM3, CA4, D2HGDH, PUS1, PRPF31, AGPS, PRPF8, RP2, OTC, FRMD7, NYX, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, AMER1, SLC9A6, BCOR, ABCD1, XDH, MMADHC, LMBRD1, ABHD5, TCN2, HEXA, GM2A, SUOX, ALDH5A1, ALDH3A2, SARDH, HEXB, LPIN1, AK2, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, CYP27B1, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, OAT, GRM6, MPV17, NME1, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, CYB5A, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, ALDH4A1, TNFRSF11B, SLC25A15, NAGS, L2HGDH, CBS, HK1, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, GLYCTK, LRPPRC, FASTKD2, COX6B1, SLC3A1, CNGA3, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, PPP2R1B, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, SLC25A38, GLRX5, TPP1, CLN3, ALMS1, OGDH, CYP17A1, NCOA4, ANKRD26, HESX1, SLC22A4, RP9, FECH, ZFHX3, PPOX, TMEM127, SEPT9, LMX1B, RPS14, STAT3, OGG1, MYOC, TIMP3, RDH5, KIF21A, FZD4, WWOX, MEN1, COL5A1, COL5A2, SNCB, EFEMP1, GPD2, KRT12, KRT3, CPOX, PAX2, PNKD, AKAP10, PLA2G2A, PHB, TEAD1, SOD1, NEFH, GSN
Specificity
1 %
Genes
100 %
|
SLC25A19 Sequence Analysis.
By Baylor Miraca Genetics Laboratories in United States.
SLC25A19
Specificity
100 %
Genes
100 %
|
SLC25A19 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories in United States.
SLC25A19
Specificity
100 %
Genes
100 %
|
SLC25A19 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories in United States.
SLC25A19
Specificity
100 %
Genes
100 %
|
SLC25A19 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories in United States.
SLC25A19
Specificity
100 %
Genes
100 %
|
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.
By Athena Diagnostics Inc in United States.
ALPL, ADSL, SLC25A19, LIAS, ABAT, GAMT, GATM, SUCLA2, ALG9, GLDC, AMT, ALDH7A1, NDUFA1, L2HGDH, CYP27A1, SLC6A8, CHRNA7, PCDH19, SLC2A1, PHGDH , (...)
View the complete list with 64 more genes
ALPL, ADSL, SLC25A19, LIAS, ABAT, GAMT, GATM, SUCLA2, ALG9, GLDC, AMT, ALDH7A1, NDUFA1, L2HGDH, CYP27A1, SLC6A8, CHRNA7, PCDH19, SLC2A1, PHGDH, CSTB, SCN1A, CACNA1A, CASR, DYNC1H1, CACNB4, ASPM, ATP1A3, CACNA1H, CHRNB2, CPA6, EFHC1, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, KCNH2, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, STX1B, SLC35A2, SLC6A1, FOLR1, GABRB2, GABRD, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, LMNB2, MBD5, KCNMA1, SCARB2, SCN5A, SLC4A10, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK
Specificity
2 %
Genes
100 %
|
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.
By Athena Diagnostics Inc in United States.
PAX6, CPT2, SHH, SLC25A19, TUBA1A, FGFR3, ARX, WDR62, FKTN, PEX7, POMGNT1, DPYD, FKRP, POMT2, POMT1, LAMA2, LARGE1, MCPH1, ASPM, FOLR1 , (...)
View the complete list with 20 more genes
PAX6, CPT2, SHH, SLC25A19, TUBA1A, FGFR3, ARX, WDR62, FKTN, PEX7, POMGNT1, DPYD, FKRP, POMT2, POMT1, LAMA2, LARGE1, MCPH1, ASPM, FOLR1, COL4A1, ARFGEF2, CENPJ, DEAF1, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B
Specificity
3 %
Genes
100 %
|
Epilepsy Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc in United States.
UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)
View the complete list with 214 more genes
UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2, TUBA1A, CTSD, SLC25A22, ALG9, GRN, GLDC, AMT, SLC9A6, ALDH7A1, NDUFA1, L2HGDH, CYP27A1, TPP1, CLN3, WWOX, SLC6A8, FGFR3, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, PLP1, RAI1, SLC2A1, WDR62, TSC2, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, GPC3, CLN6, CLN8, FKTN, PPT1, PEX7, POMGNT1, CLN5, PHGDH, PLA2G6, DPYD, CSTB, SCN1A, NOTCH3, FKRP, CACNA1A, KCNJ11, CASR, DYNC1H1, POMT2, POMT1, KCNA1, CACNB4, LAMA2, LARGE1, MCPH1, ASPM, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, EFHC1, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, KCNH2, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, STX1B, SLC35A2, SLC6A1, FOLR1, GABRB2, GABRD, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, LMNB2, MBD5, KCNMA1, SCARB2, SCN5A, SLC4A10, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, ARFGEF2, CENPJ, DEAF1, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, CTSF, DNAJC5, MFSD8, ATP13A2, KMT2D, CACNA2D1, RBFOX1, CACNA2D2, MAGI2, HNRNPU, SETD2, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, NR2F1, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, SERPINI1, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2
Specificity
1 %
Genes
100 %
|
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy.
By Athena Diagnostics Inc in United States.
UBE3A, ADSL, SLC25A19, MECP2, LIAS, STXBP1, SLC25A22, ALG9, GLDC, AMT, SLC9A6, WWOX, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, SYNGAP1, SCN1A, KCNJ11 , (...)
View the complete list with 47 more genes
UBE3A, ADSL, SLC25A19, MECP2, LIAS, STXBP1, SLC25A22, ALG9, GLDC, AMT, SLC9A6, WWOX, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, SYNGAP1, SCN1A, KCNJ11, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SLC35A2, GRIN2B, HCN1, KCNT1, PNPO, CHD2, GABRG2, GRIN2A, ALG13, BRAT1, QARS, CACNA2D1, CACNA2D2, HNRNPU, EEF1A2, KCNA2, DNM1, SIK1, PURA, KCNB1, SLC13A5, DOCK7, SZT2, GNAO1, WDR45, SCN8A, PIGA, NRXN1, GRIN1, PIGN, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, ARHGEF9, ZEB2, TREX1
Specificity
2 %
Genes
100 %
|
NGS Epilepsy/Seizure Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX , (...)
View the complete list with 125 more genes
MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, WDR62, TSC2, SYNGAP1, TSC1, PTCH1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, CACNA1A, KCNJ11, CASR, KCNA1, CACNB4, MCPH1, ASPM, ATP1A2, CHRNB2, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, ST3GAL5, SCN1B, SCN2A, SYNJ1, SLC35A2, FOLR1, GABRD, GRIN2B, KCNT1, KCNQ2, KCNQ3, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, SCN5A, TBC1D24, DEPDC5, PRRT2, ARFGEF2, CENPJ, DCX, EMX2, QARS, NDE1, SIX3, RELN, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, MFSD8, CACNA2D1, MAGI2, HNRNPU, SNAP25, SLC13A5, DOCK7, SZT2, ST3GAL3, KANSL1, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, IQSEC2, PHF6, ARHGEF9, SYN1, OPHN1, ATP6AP2, CASK, ZEB2, NECAP1, CCL2, CLCN2, NEDD4L, MTOR, VANGL1, KCNAB1, EXOSC3, TSEN34, TSEN2, TUBB2A, TGIF1, ZIC2, NALCN, CEP152, ABCB1, NODAL, FOXH1, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR
Specificity
1 %
Genes
100 %
|
Comprehensive Brain Malformation Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
UBE3A, PTEN, TUBB3, CC2D2A, OTX2, TMEM67, NPHP1, CEP290, SHH, SLC25A19, MECP2, TUBA1A, RARS2, MRPS16, SLC9A6, MKS1, SOX2, HESX1, ARX, CDKL5 , (...)
View the complete list with 86 more genes
UBE3A, PTEN, TUBB3, CC2D2A, OTX2, TMEM67, NPHP1, CEP290, SHH, SLC25A19, MECP2, TUBA1A, RARS2, MRPS16, SLC9A6, MKS1, SOX2, HESX1, ARX, CDKL5, DHCR7, FOXG1, WDR62, NIPBL, NSD1, PTCH1, FKTN, POMGNT1, TMEM216, AHI1, FKRP, FGF8, L1CAM, VRK1, POMT2, POMT1, LARGE1, MCPH1, ASPM, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, KIF1BP, OFD1, ATRX, PHF6, OPHN1, CASK, CUL4B, ZEB2, ACTB, ACTG1, MED12, LAMC3, UPF3B, EXOSC3, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, NODAL, FOXH1, CDON, GLI2, CDK5RAP2, PCNT, ATR, NFIX, EZH2, GLI3, RAB3GAP2, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, DLL1, EOMES, GAS1, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, DISP1
Specificity
1 %
Genes
100 %
|
Comprehensive Mitochondrial Metabolic Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2 , (...)
View the complete list with 176 more genes
MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, GAA, MMACHC, SDHAF2, SLC37A4, MTRR, CPS1, CPT2, OPA1, TRMU, DLD, POLG, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SLC25A13, SDHC, HADHA, OPA3, COQ9, PDSS2, PDSS1, DGUOK, PDHB, TMEM70, SARS2, PHKA2, NDUFAF1, TTC19, NDUFA10, NUBPL, PYGL, G6PC, KARS, PHKG2, PGM1, COX4I2, SDHB, SUCLA2, COQ8A, MRPS22, GYS1, RARS2, DARS2, SLC25A3, TUFM, TSFM, MRPS16, POLG2, TK2, GFM1, HADHB, PDP1, NDUFA13, COQ2, PCCB, PCCA, SCO2, TYMP, MPI, ETHE1, PUS1, OTC, PDHA1, TIMM8A, TAZ, PHKA1, MMADHC, LMBRD1, TCN2, LPIN1, PHKB, PGAM2, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, ISCU, CPT1A, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFS6, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, SUCLG1, DLAT, IVD, SLC25A15, NAGS, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, LRPPRC, FASTKD2, COX6B1, SLC22A5, SLC25A20, PMM2, TACO1, FARS2, MTFMT, PDHX, CPT1B, SDHD, MT-TL1, MT-TK, MT-ATP6, MT-ND1, MT-ND6, MT-ND4, MT-TS1, MT-TS2, LARS2, NARS2, MT-RNR1, TFAM, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, MT-TT, ACACB, TFB1M, MRRF, NDUFS5, MARS2, COX7A1, COX4I1, NDUFA8, NDUFA7, NDUFV3, NDUFB6, COX10, SCO1, MT-TP, MT-TG, MT-TI, MT-TN, MT-ND4L, MT-TE, MT-TH, MT-TQ, MT-TC, MT-TD, MT-TR, MT-TF, MT-TM, MT-TL2, MT-TV, MT-TY, MT-TW, MT-TA
Specificity
1 %
Genes
100 %
|
Microcephaly.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
UBE3A, TUBB3, SLC25A19, MECP2, SLC9A6, CDKL5, DHCR7, FOXG1, WDR62, NIPBL, MCPH1, ASPM, CENPJ, RAB3GAP1, STIL, TCF4, ATRX, CASK, ZEB2, CEP152 , (...)
View the complete list with 8 more genes
UBE3A, TUBB3, SLC25A19, MECP2, SLC9A6, CDKL5, DHCR7, FOXG1, WDR62, NIPBL, MCPH1, ASPM, CENPJ, RAB3GAP1, STIL, TCF4, ATRX, CASK, ZEB2, CEP152, CDK5RAP2, PCNT, ATR, RAB3GAP2, RAB18, IER3IP1, RBBP8, MYCN
Specificity
4 %
Genes
100 %
|
SLC25A19 sequencing.
By Genetic Services Laboratory University of Chicago in United States.
SLC25A19
Specificity
100 %
Genes
100 %
|
Autosomal Recessive Primary Microcephaly Tier 2 panel.
By Genetic Services Laboratory University of Chicago in United States.
SLC25A19, WDR62, MCPH1, ARFGEF2, CENPJ, NDE1, STIL, PNKP, CEP152, CDK5RAP2, CENPF, STAMBP, MED17, CIT, AGMO, SASS6, MFSD2A, CENPE, PHC1, CDK6 , (...)
View the complete list with 4 more genes
SLC25A19, WDR62, MCPH1, ARFGEF2, CENPJ, NDE1, STIL, PNKP, CEP152, CDK5RAP2, CENPF, STAMBP, MED17, CIT, AGMO, SASS6, MFSD2A, CENPE, PHC1, CDK6, ZNF335, CEP135, KNL1, CEP63
Specificity
5 %
Genes
100 %
|
Microcephaly Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)
View the complete list with 50 more genes
UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL, SPATA5, DYRK1A, PNKP, TCF4, KIF1BP, ATRX, CASK, ZEB2, CTNNB1, TSEN34, TSEN2, CEP152, CDK5RAP2, PCNT, ATR, CENPF, RAB3GAP2, STAMBP, KIF11, EFTUD2, RAB18, IER3IP1, RBBP8, NHEJ1, LIG4, TRMT10A, TBC1D20, KATNB1, MED17, SASS6, MFSD2A, CENPE, PHC1, CDK6, ZNF335, CEP135, KNL1, CEP63, TRAPPC9, ORC1, CDC6, CDT1, ORC6, ORC4, PLK4, CRIPT, PYCR2, TUBGCP4, ASXL3, TUBGCP6
Specificity
2 %
Genes
100 %
|
Microcephaly Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)
View the complete list with 59 more genes
UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL, SPATA5, DYRK1A, PNKP, TCF4, KIF1BP, ATRX, CASK, ZEB2, DIAPH1, CTNNB1, EIF2S3, TSEN34, TSEN2, CEP152, CDK5RAP2, PCNT, ATR, CENPF, SOX11, RAB3GAP2, STAMBP, KIF11, EFTUD2, RAB18, IER3IP1, RBBP8, NHEJ1, LIG4, TRMT10A, TBC1D20, KATNB1, MED17, CIT, AGMO, SASS6, MFSD2A, CENPE, PHC1, CDK6, ZNF335, CEP135, KNL1, CEP63, TRAPPC9, NIN, ORC1, CDC6, CDT1, ORC6, ORC4, PLK4, CRIPT, PYCR2, TUBGCP4, ASXL3, TUBGCP6, USP18, PPP1R15B, SLC1A4
Specificity
2 %
Genes
100 %
|
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).
By ARUP Laboratories, Molecular Genetics and Genomics in United States.
MCCC2, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRQ, UQCRB, ATPAF2, BCKDHA, BCKDHB, BCS1L, TWNK, CPT2, OPA1, TRMU, WFS1, DLD , (...)
View the complete list with 132 more genes
MCCC2, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRQ, UQCRB, ATPAF2, BCKDHA, BCKDHB, BCS1L, TWNK, CPT2, OPA1, TRMU, WFS1, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, RRM2B, NDUFAF2, SLC25A13, MFN2, SDHC, HADHA, FH, COQ9, PDSS2, PDSS1, DNM1L, DGUOK, PDHB, TMEM70, PCK2, NDUFAF1, HMGCL, GFER, COX4I2, SDHB, SUCLA2, COQ8A, CYCS, MRPS22, RARS2, DARS2, SLC25A3, TUFM, TSFM, MRPS16, DNAJC19, POLG2, TK2, SLC25A22, GFM1, HADHB, PDP1, COQ2, SPG7, HMGCS2, PINK1, SCO2, TYMP, ETHE1, PUS1, PDHA1, TIMM8A, TAZ, ABCB7, SUOX, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, ISCU, CPT1A, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, DBT, SUCLG1, DLAT, OXCT1, SLC25A15, ETFB, ETFA, ETFDH, FXN, LRPPRC, FASTKD2, COX6B1, SLC3A1, ASS1, SLC22A5, SLC25A20, APTX, PDHX, SDHD, MT-TL1, MT-TK, MT-ATP6, MT-TS1, MT-TS2, LARS2, MT-CYB, MT-ND2, MT-CO2, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, MT-TT, COX10, SCO1, MT-TP, MT-TG, MT-TI, MT-TN, MT-ND4L, MT-TE, MT-TH, MT-TQ, MT-TC, MT-TD, MT-TR, MT-TF, MT-TM, MT-TL2, MT-TV, MT-TY, MT-TW, MT-TA, HADH, PREPL, PPM1B
Specificity
1 %
Genes
100 %
|
Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type(sequence analysis of SLC25A19 gene).
By CGC Genetics in Portugal.
SLC25A19
Specificity
100 %
Genes
100 %
|
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).
By CGC Genetics in Portugal.
SLC25A19, DNM1L, RARS2, WDR62, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, DYRK1A, PNKP, OPHN1 , (...)
View the complete list with 32 more genes
SLC25A19, DNM1L, RARS2, WDR62, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, DYRK1A, PNKP, OPHN1, CASK, EXOSC3, TSEN34, TSEN2, CEP152, CDK5RAP2, PCNT, ATR, CHMP1A, AP4M1, STAMBP, KIF11, EFTUD2, IER3IP1, RBBP8, NHEJ1, LIG4, TUBG1, KIF5C, KIF2A, MED17, ZNF335, CEP135, KNL1, CEP63, NIN, AMPD2, SEPSECS, TUBGCP6, BUB1B, CLP1, VPS53
Specificity
2 %
Genes
100 %
|
Neurogenetic Disorders - panels.
By MGZ Medical Genetics Center in Germany.
MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)
View the complete list with 577 more genes
MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, MMACHC, PRKCG, APP, PSEN1, TUBB3, SDHAF2, AMACR, HSD17B4, CPS1, CPT2, OPA1, TRMU, WFS1, PSAP, ELOVL4, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, ALAS2, MFN2, SDHC, PANK2, OPA3, VCP, MECP2, MTO1, COQ9, PDSS2, PDSS1, COQ6, NDUFA12, NDUFB3, NDUFA9, COX14, AGK, ALDH18A1, DGUOK, BOLA3, PDHB, TMEM70, SARS2, NFU1, NDUFAF1, TTC19, MTPAP, NDUFA10, NUBPL, KARS, GFER, TMEM126A, SLC25A12, GAMT, SPR, COX4I2, SDHB, STXBP1, SUCLA2, COQ8A, MRPS22, RARS2, DARS2, SLC25A3, PNPLA2, TUFM, TSFM, MRPS16, REEP1, DNAJC19, POLG2, TK2, SLC25A22, GFM1, PDP1, ALG2, GRN, NDUFA13, COQ2, SPG7, PARK7, PCCB, PCCA, PINK1, GLDC, SCO2, GAD1, TYMP, ETHE1, SQSTM1, PUS1, OTC, PDHA1, TIMM8A, TAZ, ABCB7, AIFM1, ABCD1, ABHD5, HEXA, ALDH3A2, HEXB, PHYH, ALDH7A1, ACOX1, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, HIBCH, DBT, SUCLG1, DLAT, GALC, IVD, SLC25A15, L2HGDH, GBE1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, ASS1, CYP27A1, SLC22A5, SLC25A20, PRKN, APTX, ASL, SLC25A38, TPP1, CLN3, KIF21A, WWOX, PNKD, TACO1, FARS2, HARS2, SLC6A8, MTFMT, PDHX, SDHA, DPAGT1, MGME1, ARSA, ASPA, ARX, GBA, CDKL5, EIF2B1, FOXG1, GJC2, MEF2C, NPC1, NPC2, PCDH19, PLP1, SLC2A1, SYNGAP1, ATM, MRE11, SDHD, CHRNE, CLN6, CLN8, DOK7, MTTP, PEX2, PPT1, PEX7, SACS, TH, MLC1, MCOLN1, PEX1, SLC17A5, SUMF1, TTPA, CLN5, EIF2B5, PHGDH, PLA2G6, RAPSN, GDAP1, DNM2, ATL1, ZFYVE26, EIF2B3, EIF2B2, EIF2B4, SPG11, CSTB, SCN1A, PSEN2, MAPT, APOE, NOTCH3, PPP2R2B, CACNA1A, TOR1A, THAP1, GCH1, LRRK2, SGCE, SNCA, CASR, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, RYR1, SETX, CHMP2B, TARDBP, UBQLN2, MTM1, BICD2, SYNE1, KCNA1, CACNB4, SLC1A3, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, ANO10, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, LAMA2, DPM2, CHKB, COL6A3, ATP1A2, ATP1A3, CACNA1H, CHRNB2, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SLC19A3, SCN1B, SCN2A, SYNJ1, STX1B, FOLR1, GABRD, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, LMNB2, MBD5, KCNMA1, SCARB2, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, COL4A1, QARS, RELN, TSEN54, ATP13A2, HNRNPU, SPATA5, EEF1A2, SIK1, SNAP25, SLC13A5, DOCK7, WDR45, SCN8A, DYRK1A, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, RNASEH2A, RNASEH2C, RNASEH2B, ARHGEF9, KDM5C, TREX1, GFAP, VPS13A, CLPP, POLR1C, PNPT1, NLRP3, DNMT1, SOX10, SLC19A2, LARS2, PEX6, NARS2, FUCA1, CACNA1C, CHD8, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, NEU1, HCFC1, LAMP2, TAF1, SLC16A2, CLCN4, CLCN2, EXOSC3, TUBB2A, MARS, TFG, GAN, LYST, TBK1, NKX2-1, FBXL4, DNA2, HNRNPDL, TOR1AIP1, GMPPB, MYBPC1, ERLIN1, REEP2, MAG, CPT1C, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, STAMBP, FDX2, ACTG2, RNASET2, CCT5, GJA1, NBAS, FTL, CP, COASY, DCAF17, MARS2, COX10, SCO1, CSF1R, PRNP, TPK1, FBXO7, EARS2, MR1, SLC6A3, HADH, APOB, ABCA1, EIF2AK3, VPS35, COQ8B, XK, RANBP2, PRKRA, EPG5, SLC25A46, MICU1, HEPACAM, DNAJC3, PREPL, LRP4, ALG14, IBA57, ARL6IP1, GRIK2, KCNH5, XRCC4, AMPD2, SEPSECS, PYCR2, SLC1A4, PDGFB, SERAC1, CLPB, UBA5, ANO3, HPCA, KCTD17, ECHS1, GNAL, ADCY5, SLC30A10, ACY1, AAAS, RARS, ATP8A2, CACNA1G, SLC52A2, GRID2, NOL3, PIK3R5, PTRH2, RNASEH1, RNF216, SLC6A19, STUB1, DGAT2, LMNB1, SLC52A3, COQ4, RUBCN, PMPCA, TRNT1, POLR3A, POLR3B, PRDM8, CHCHD10, APOPT1, SNX14, PSAT1, RETREG1, FAM126A, COL4A2, NOP56, GLRB, GLRA1, SLC6A5, CIZ1, PDE8B, GPHN, TALDO1, UQCRC2, AIMP1, CLP1, EXOSC8, CACNA1B, NPRL3, ATP5F1A, LARS, CAD, CARS2, ATP2B4, NDUFB9, ZFR, WDR48, USP8, ARSI, LYRM7, ISCA2, FLAD1, ARHGEF15, COX8A, GTPBP3, IARS2, COQ7, NDUFB11, MRPL44, MRPS7, PARS2, TRMT5, TARS2, VARS2, RMND1, TRIT1, LONP1, TANGO2, CCDC115, FLRT1, SLC25A42, KCNA4, SLC25A26, GTPBP2, PPT2, PODXL, STAT2, TXN2, VPS11, PTCD1, KLC4, PITRM1
Specificity
1 %
Genes
100 %
|
Epilepsy and Mitochondrial Encephalopathy.
By MGZ Medical Genetics Center in Germany.
UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2, MTO1 , (...)
View the complete list with 166 more genes
UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2, MTO1, PDSS2, PDSS1, NDUFA12, NDUFB3, NDUFA9, PDHB, TMEM70, SARS2, NFU1, TTC19, MTPAP, NUBPL, GFER, SLC25A12, GAMT, SDHB, STXBP1, SUCLA2, MRPS22, RARS2, SLC25A3, TUFM, TSFM, MRPS16, TK2, SLC25A22, GFM1, PDP1, SPG7, GLDC, SCO2, TYMP, ETHE1, PUS1, PDHA1, TIMM8A, TAZ, HEXA, HEXB, ALDH7A1, MPV17, NDUFA2, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFAF3, NDUFA1, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, SUCLG1, ETFB, ETFA, ETFDH, LRPPRC, FASTKD2, SLC25A20, TPP1, CLN3, TACO1, FARS2, SLC6A8, MTFMT, PDHX, SDHA, DPAGT1, ARX, CDKL5, FOXG1, MEF2C, NPC1, NPC2, PCDH19, SLC2A1, SYNGAP1, SDHD, CLN6, PPT1, CLN5, PHGDH, CSTB, SCN1A, SGCE, SLC33A1, FA2H, SYNE1, DPM2, EFHC1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SLC19A3, SCN1B, SCN2A, SYNJ1, FOLR1, GABRD, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, ASAH1, TBC1D24, PRRT2, QARS, HNRNPU, EEF1A2, DOCK7, WDR45, SCN8A, PLCB1, SPTAN1, PNKP, ARHGEF9, GFAP, PNPT1, SLC19A2, NEU1, CLCN4, TUBB2A, FBXL4, HNRNPDL, C19orf12, CP, DCAF17, MARS2, SCO1, TPK1, EARS2, HADH, EIF2AK3, MICU1, IBA57, KCNH5, SERAC1, GPHN, UQCRC2, CLP1, NDUFB9, LYRM7, FLAD1, ARHGEF15, TARS2, VARS2, RMND1, TRIT1, PPT2, PTCD1
Specificity
1 %
Genes
100 %
|
Mitochondrial Diseases.
By MGZ Medical Genetics Center in Germany.
AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SDHAF2, CPT2, OPA1, TRMU , (...)
View the complete list with 148 more genes
AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SDHAF2, CPT2, OPA1, TRMU, WFS1, DLD, POLG, NDUFS4, SLC25A19, SLC25A4, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, MFN2, SDHC, PANK2, OPA3, MTO1, COQ9, PDSS2, PDSS1, COQ6, NDUFA12, NDUFB3, NDUFA9, COX14, AGK, DGUOK, BOLA3, PDHB, TMEM70, SARS2, NFU1, NDUFAF1, TTC19, MTPAP, NDUFA10, NUBPL, KARS, GFER, TMEM126A, SLC25A12, COX4I2, SDHB, SUCLA2, COQ8A, MRPS22, RARS2, DARS2, SLC25A3, PNPLA2, TUFM, TSFM, MRPS16, DNAJC19, POLG2, TK2, GFM1, PDP1, COQ2, SPG7, SCO2, TYMP, ETHE1, PUS1, PDHA1, TIMM8A, TAZ, ABCB7, AIFM1, ABHD5, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, SUCLG1, DLAT, GBE1, ETFB, ETFA, ETFDH, LRPPRC, FASTKD2, COX6B1, SLC22A5, SLC25A20, APTX, SLC25A38, TACO1, FARS2, HARS2, SLC6A8, MTFMT, PDHX, SDHA, DPAGT1, MGME1, SDHD, GDAP1, KIF5A, SLC33A1, ANO10, CHKB, SLC19A3, GFAP, CLPP, PNPT1, SLC19A2, LARS2, LAMP2, FBXL4, DNA2, FDX2, ACTG2, MARS2, COX10, SCO1, TPK1, EARS2, EIF2AK3, MICU1, IBA57, SERAC1, UQCRC2, ATP5F1A, NDUFB9, LYRM7, FLAD1, TARS2, VARS2, RMND1, TRIT1, PTCD1
Specificity
1 %
Genes
100 %
|
Mitochondrial Encephalopathy.
By MGZ Medical Genetics Center in Germany.
AARS2, ACAD9, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, SDHAF2, OPA1, TRMU, WFS1, DLD, POLG, NDUFS4, SLC25A19, SLC25A4 , (...)
View the complete list with 111 more genes
AARS2, ACAD9, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, SDHAF2, OPA1, TRMU, WFS1, DLD, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MTO1, COQ9, PDSS2, PDSS1, COQ6, NDUFA12, NDUFB3, NDUFA9, COX14, AGK, DGUOK, BOLA3, PDHB, TMEM70, SARS2, NFU1, TTC19, MTPAP, NUBPL, GFER, SLC25A12, COX4I2, SDHB, SUCLA2, COQ8A, MRPS22, RARS2, DARS2, SLC25A3, TUFM, TSFM, MRPS16, DNAJC19, TK2, GFM1, PDP1, COQ2, SPG7, SCO2, TYMP, ETHE1, PUS1, PDHA1, TIMM8A, TAZ, AIFM1, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFAF3, NDUFA1, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, SUCLG1, DLAT, ETFB, ETFA, ETFDH, LRPPRC, FASTKD2, COX6B1, SLC25A20, TACO1, FARS2, SLC6A8, MTFMT, PDHX, SDHA, DPAGT1, SDHD, SLC33A1, SLC19A3, GFAP, PNPT1, SLC19A2, FBXL4, MARS2, COX10, SCO1, TPK1, EARS2, EIF2AK3, MICU1, IBA57, SERAC1, UQCRC2, ATP5F1A, NDUFB9, LYRM7, FLAD1, TARS2, VARS2, RMND1, TRIT1, PTCD1
Specificity
1 %
Genes
100 %
|
Epilepsy.
By MGZ Medical Genetics Center in Germany.
UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...)
View the complete list with 192 more genes
UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2, MTO1, PDSS2, PDSS1, NDUFA12, NDUFB3, NDUFA9, PDHB, TMEM70, SARS2, NFU1, TTC19, MTPAP, NUBPL, GFER, SLC25A12, GAMT, SDHB, STXBP1, SUCLA2, MRPS22, RARS2, SLC25A3, TUFM, TSFM, MRPS16, TK2, SLC25A22, GFM1, PDP1, SPG7, GLDC, SCO2, TYMP, ETHE1, PUS1, PDHA1, TIMM8A, TAZ, HEXA, HEXB, ALDH7A1, MPV17, NDUFA2, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFAF3, NDUFA1, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, SUCLG1, ETFB, ETFA, ETFDH, LRPPRC, FASTKD2, SLC25A20, TPP1, CLN3, TACO1, FARS2, SLC6A8, MTFMT, PDHX, SDHA, DPAGT1, ARX, CDKL5, FOXG1, MEF2C, NPC1, NPC2, PCDH19, PLP1, SLC2A1, SYNGAP1, SDHD, CLN6, PPT1, CLN5, PHGDH, PLA2G6, EIF2B3, CSTB, SCN1A, CACNA1A, SGCE, CASR, SLC33A1, FA2H, SYNE1, CACNB4, DPM2, ATP1A2, CACNA1H, CHRNB2, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SLC19A3, SCN1B, SCN2A, SYNJ1, STX1B, FOLR1, GABRD, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, ASAH1, TBC1D24, DEPDC5, PRRT2, QARS, ATP13A2, HNRNPU, EEF1A2, DOCK7, WDR45, SCN8A, DYRK1A, PLCB1, SPTAN1, PNKP, ARHGEF9, GFAP, PNPT1, SLC19A2, CHD8, NEU1, CLCN4, TUBB2A, FBXL4, HNRNPDL, GMPPB, MYBPC1, C19orf12, TUBB4A, FTL, CP, DCAF17, MARS2, SCO1, TPK1, EARS2, HADH, EIF2AK3, MICU1, IBA57, KCNH5, SERAC1, NOL3, POLR3A, POLR3B, FAM126A, GPHN, UQCRC2, CLP1, NDUFB9, LYRM7, FLAD1, ARHGEF15, TARS2, VARS2, RMND1, TRIT1, PPT2, PTCD1
Specificity
1 %
Genes
100 %
|
Comprehensive mitochondrial disorders panel.
By Centogene AG - the Rare Disease Company in Germany.
MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR , (...)
View the complete list with 160 more genes
MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR, AMACR, CPS1, CPT2, OPA1, ABCB6, TRMU, PRODH, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, AFG3L2, CYP11B1, KIF1B, ALAS2, SLC25A13, MFN2, SDHC, PANK2, HADHA, OPA3, FH, CYP11B2, MRPL3, ACO2, IDH3B, DHODH, LIAS, NDUFB3, NDUFA9, AGK, ALDH18A1, DGUOK, DIABLO, PDHB, ALDH6A1, SARS2, PCK2, NDUFAF1, HMGCL, HSD3B2, NDUFA10, CYP24A1, CYP11A1, SCP2, IDH2, CAVIN1, ABAT, SLC25A12, GATM, COX4I2, SOD2, SDHB, SUCLA2, CYCS, MRPS22, ACAD8, SLC25A3, HAX1, TUFM, TSFM, MRPS16, HTRA2, ALDH2, POLG2, ACADSB, TK2, SLC25A22, GFM1, HADHB, PDP1, UNG, COQ2, SPG7, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, SCO2, RNASEL, OTC, PDHA1, GK, TIMM8A, ABCB7, MAOA, ACSL4, SLC9A6, SUOX, ALDH5A1, SARDH, AK2, CYP27B1, AGXT, OAT, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, CPT1A, NDUFA1, NDUFA11, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, MCEE, MMAB, MMAA, MUT, DBT, MLYCD, SUCLG1, DLAT, OXCT1, IVD, ALDH4A1, SLC25A15, HK1, ETFB, ETFA, ETFDH, GCDH, FXN, COX6B1, CYP27A1, SLC25A20, FECH, PPOX, OGG1, CPOX, TMLHE, PDHX, SDHA, SDHD, BRIP1, PDX1, LARS2, COX10, SCO1, HADH, GSR, CRBN, BCL2, MIP, NDUFB9, TIMM44, HSPA9
Specificity
1 %
Genes
100 %
|
Microcephaly Amish type.
By Centogene AG - the Rare Disease Company in Germany.
SLC25A19
Specificity
100 %
Genes
100 %
|
Microcephaly panel.
By Centogene AG - the Rare Disease Company in Germany.
SLC25A19, DNM1L, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1 , (...)
View the complete list with 7 more genes
SLC25A19, DNM1L, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1, AKT3, NHEJ1, CEP135, CEP63, TUBGCP6, NR2E1, MSMO1
Specificity
4 %
Genes
100 %
|
Microcephaly Amish type.
By Centogene AG - the Rare Disease Company in Germany.
SLC25A19
Specificity
100 %
Genes
100 %
|
AllNeuro panel.
By Centogene AG - the Rare Disease Company in Germany.
F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)
View the complete list with 1185 more genes
F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, PC, UQCRQ, ARG1, UQCRB, TYROBP, ATP5F1E, ATP7A, ATP7B, ATPAF2, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, MMACHC, FBLN5, PRKCG, APP, AMN, PAX6, TGFB1, PSEN1, TUBB3, MTR, RET, OPTN, GPR143, INPP5E, MTRR, AMACR, HSD17B4, CPT2, OPA1, KRT5, DTNBP1, WFS1, PSAP, GLB1, CC2D2A, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, ELOVL4, NDP, HPRT1, NHS, TMEM67, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, TTC8, TRIM32, SHH, PRPH2, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, KIF1B, MFN2, CRYAB, PANK2, HADHA, RAF1, OPA3, FH, VCP, SMPD1, MECP2, CYP11B2, MTO1, COQ9, PDSS2, PDSS1, ACO2, NDUFA12, DDOST, NDUFB3, NDUFA9, AGK, ALDH18A1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, BLOC1S3, HPS6, HPS5, HPS4, HPS3, TMEM70, NFU1, PCK2, NDUFAF1, CCDC28B, TTC19, MTPAP, NDUFA10, NUBPL, SCP2, KARS, SPTLC2, ABAT, GFER, TLR3, TMEM126A, SLC25A12, DPM3, PGM1, LDHA, ENO3, GAMT, GATM, SPR, STXBP1, SUCLA2, COQ8A, RFT1, TUBA1A, GYS1, RARS2, COG1, COG8, DARS2, TUSC3, SLC25A3, PNPLA2, TSFM, HTRA2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TK2, SLC25A22, MPDU1, GFM1, FLVCR1, HADHB, DPM1, COG7, ALG9, ATIC, ALG1, AP3B1, ALG8, ALG2, GRN, COQ2, SPG7, ALG12, B4GALT1, PARK7, HMGCS2, PINK1, GCSH, GLDC, AMT, CISD2, SCO2, SLC35A1, GAD1, ALG6, TYMP, MPI, ETHE1, ALG3, PUS1, OTC, FRMD7, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, SLC9A6, BCOR, ABCD1, MMADHC, LMBRD1, ABHD5, HEXA, GM2A, ALDH5A1, ALDH3A2, HEXB, LPIN1, PHYH, SLC35C1, ALDH7A1, ACOX1, PGAM2, PTS, QDPR, PAH, AGXT, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, DBT, SUCLG1, GALC, ALDH4A1, HK1, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, SLC3A1, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, TPP1, CLN3, ALMS1, HESX1, KIF21A, WWOX, SNCB, PNKD, SOD1, NEFH, GSN, TACO1, TMLHE, SLC6A8, MTFMT, SDHA, ABCD4, AGA, AHCY, ARSB, DOLK, DPAGT1, MOGS, HPD, TSHR, FGFR3, AR, ARSA, ASPA, ARX, ELP1, GBA, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, EIF2B1, FOXG1, GJC2, HRAS, IDS, IDUA, IKBKG, KRAS, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, SHOC2, SLC2A1, SMN1, SOS1, WDR62, FGFR2, HDAC8, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, ATM, MRE11, NBN, PTCH1, PHOX2B, MET, GPC3, RAD50, CHRNE, CLN6, CLN8, DOK7, FKTN, NEB, PEX2, PROP1, PPT1, PEX7, SGCA, SGCB, SACS, TH, MLC1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, ABCC8, CAPN3, CLN5, EIF2B5, PLA2G6, RAPSN, TMEM216, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, NTRK1, WNK1, SPTLC1, ATL1, ZFYVE26, EIF2B3, SMN2, EIF2B2, EIF2B4, SPG11, CSTB, SCN1A, PSEN2, MAPT, APOE, C9orf72, AHI1, NOTCH3, CLCN1, FKRP, CAV3, UBA1, CNBP, DYSF, SCN4A, ATXN3, CACNA1A, TOR1A, THAP1, GCH1, NF1, LRRK2, SGCE, SNCA, FGFR1, KCNJ11, CASR, INS, INF2, LAMB2, BSND, CLCNKB, KCNJ1, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, MATR3, SPAST, KIF5A, ATP2A1, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, BAG3, FHL1, SELENON, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, CACNA1S, RYR1, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TPM3, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, SYNE1, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, KCNA1, CACNB4, SLC1A3, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SYT14, ANO10, TDP1, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, LAMA2, POMGNT2, COL6A2, COL6A3, LARGE1, COL6A1, MCPH1, ASPM, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, SLC35A2, SLC6A1, FOLR1, GABRD, GRIN2B, KCNT1, KCNQ2, KCNQ3, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, KCNMA1, SCARB2, SCN5A, ALG13, ASAH1, TBC1D24, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, KRIT1, DNAJC5, MFSD8, ATP13A2, CCM2, PDCD10, KMT2D, RBFOX1, MAGI2, SETD2, TBL1XR1, SLC13A5, NEXMIF, SZT2, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, SERPINI1, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2, HTRA1, SHANK3, SHANK2, ACTB, ACTG1, CACNA1D, EDN3, ERCC2, NLRP3, DNMT1, EDNRB, SOX10, PRPS1, CHSY1, GJB3, MYH14, MYH9, PEX6, TFAP2A, DIAPH3, ADNP, MID1, MED12, LAMC3, KIRREL3, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, KAT6B, CLCNKA, MVK, FOXP3, NEU1, CHRNG, PHF8, IGBP1, HUWE1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, FANCB, DKC1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, ZCCHC12, MSX2, TWIST1, NSUN2, CLCN2, NEDD4L, MTOR, VANGL1, EXOSC3, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR, NAGA, HYAL1, TGFB2, TGFBR1, TGFBR2, SKI, ACTA2, ABCC6, NFIX, RNF135, GLI3, TP63, MAGEL2, KDM6A, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, IFT140, BLOC1S6, SLC4A4, ACVRL1, DOCK8, CSF2RB, NKX2-1, PRKAG2, AMPD1, COL12A1, LIMS2, MYF6, TNPO3, MTMR14, HNRNPDL, SLC5A7, POMK, GMPPB, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, PIEZO2, CHMP1A, ERCC6, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, ERLIN1, REEP2, MAG, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, UCHL1, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, KIF11, CTDP1, PGK1, FGF10, SLC9A9, LHX4, ACE, CD320, ALX4, EP300, RNASET2, EFTUD2, ASXL1, CCT5, GNPAT, CTC1, NOD2, FTL, CP, COASY, DCAF17, BDNF, MASP1, VEGFA, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, EOMES, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, MARS2, COX10, SCO1, COG4, ALG11, COG6, COG5, TMEM165, IL11RA, CSF1R, TREM2, PRNP, SORL1, TPK1, SLC20A2, FBXO7, EARS2, DRD2, SLC6A3, PCBD1, APOA1, B9D2, ABCA1, PTF1A, VPS35, GP1BA, A2M, FGA, MYO5A, VIPAS39, CD36, VAX1, FREM1, ALX1, B3GLCT, PIK3R2, AKT3, AKT1, SLC4A1, RBM8A, NHEJ1, XK, LPIN2, FADD, DST, COL7A1, RANBP2, PRKRA, NOTCH2, TCTN3, UNC93B1, TRAF3, TICAM1, NLRP12, OCLN, NTRK2, PIGL, PDE6D, CSPP1, WNT5A, HEPACAM, RIN2, ZNF423, DYNC2H1, GRIP1, ESCO2, DHH, ROR2, WNT7A, ICK, ARSE, MAMLD1, PREPL, ASNS, SNAP29, CCDC88C, MPDZ, LAMB1, MED17, ZNF335, CEP135, KNL1, CEP63, TTI2, TAF2, NDST1, CRADD, EPB41L1, CACNG2, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8, CD96, ALX3, ORC1, RNU4ATAC, AMPD2, SEPSECS, ASXL3, TUBGCP6, TSHB, TG, TBCE, DNAJC6, ANO3, HPCA, BCAP31, GNAL, ADCY5, SLC30A10, ACY1, AAAS, ATP8A2, ATP2B3, CAMTA1, ATCAY, COL18A1, GRID2, NOL3, PIK3R5, ELOVL5, ERCC5, NAT8L, STUB1, ITM2B, LMNB1, MAPK10, RUBCN, ZNF592, COA5, WDR81, POLR3A, POLR3B, RNF170, CHCHD10, CWF19L1, SCN10A, AP1S1, DSC3, KCNE5, WNT10A, EIF4G1, IL1RN, ARHGAP31, CERS1, ASCL1, GDNF, RETREG1, NGF, ARHGEF10, HOXD10, FAM126A, COL4A2, GYG1, PEX11B, POGZ, TRPS1, IFRD1, NOP56, UMPS, GLRB, TFAP2B, CST3, GLRA1, IGF1, SLC6A5, DRD3, TRPM6, NOS3, HDAC4, CIZ1, LYZ, PDE8B, HPSE2, PLEKHG4, EXOC8, AIMP1, IRX5, WNT3, TUBA4A, MSX1, TMCO1, GIGYF2, SNCAIP, ERCC1, ZBTB16, FTO, CHRM3, EXOSC8, TRPM7, FBXO38, YWHAE, CACNA1B, ALAD, KANK1, UPB1, NECTIN1, PRRX1, NOG, ATP2B4, ZFR, WDR48, USP8, ARSI, STRADA, RBFOX3, NDUFA4, ERBB4, WAC, HERC2, KCNK9, ADK, FLRT1, NXF5, ELK1, NRG1, VDAC1, DNAH9, FZD9, CD59, JRK, ACKR1, CD207, CR1, CNTNAP4, CDK11A, RABGGTA, TNFSF4, FRG1, TAS2R38, CISH, SNX3, ICAM1, YAP1, ADAM10, ZBTB18, EIF4E, SNIP1, AANAT, KCNK18, XBP1, NOS2, TIRAP, TLR5, PRKCH, ALOX5AP, TNF, FCGR2B
Specificity
1 %
Genes
100 %
|
CentoICU platinum plus.
By Centogene AG - the Rare Disease Company in Germany.
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)
View the complete list with 494 more genes
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH
Specificity
1 %
Genes
100 %
|
CentoICU platinum.
By Centogene AG - the Rare Disease Company in Germany.
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)
View the complete list with 494 more genes
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH
Specificity
1 %
Genes
100 %
|
Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type.
By Centogene AG - the Rare Disease Company in Germany.
SLC25A19
Specificity
100 %
Genes
100 %
|
Microcephaly and Pontocerebellar Hypoplasia Panel.
By CeGaT GmbH in Germany.
SLC25A19, RARS2, WDR62, DYNC1H1, VRK1, MCPH1, ASPM, MBD5, CENPJ, PQBP1, TSEN54, STIL, DYRK1A, PNKP, CASK, EXOSC3, TSEN34, TSEN2, CEP152, CDK5RAP2 , (...)
View the complete list with 16 more genes
SLC25A19, RARS2, WDR62, DYNC1H1, VRK1, MCPH1, ASPM, MBD5, CENPJ, PQBP1, TSEN54, STIL, DYRK1A, PNKP, CASK, EXOSC3, TSEN34, TSEN2, CEP152, CDK5RAP2, PCNT, ATR, CHMP1A, STAMBP, RBBP8, TUBG1, KIF5C, KIF2A, MED17, ZNF335, CEP135, KNL1, CEP63, NIN, SEPSECS, BUB1B
Specificity
3 %
Genes
100 %
|
Microcephaly and Pontocerebellar Hypoplasia Panel.
By CeGaT GmbH in Germany.
SLC25A19, RARS2, WDR62, DYNC1H1, VRK1, MCPH1, ASPM, MBD5, CENPJ, PQBP1, TSEN54, STIL, DYRK1A, PNKP, CASK, EXOSC3, TSEN34, TSEN2, CEP152, CDK5RAP2 , (...)
View the complete list with 16 more genes
SLC25A19, RARS2, WDR62, DYNC1H1, VRK1, MCPH1, ASPM, MBD5, CENPJ, PQBP1, TSEN54, STIL, DYRK1A, PNKP, CASK, EXOSC3, TSEN34, TSEN2, CEP152, CDK5RAP2, PCNT, ATR, CHMP1A, STAMBP, RBBP8, TUBG1, KIF5C, KIF2A, MED17, ZNF335, CEP135, KNL1, CEP63, NIN, SEPSECS, BUB1B
Specificity
3 %
Genes
100 %
|
Nuclear encoded Mitochondriopathies Panel.
By CeGaT GmbH in Germany.
MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)
View the complete list with 263 more genes
MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, STAR, ELAC2, SDHAF2, AMACR, CPS1, CPT2, OPA1, TRMU, WFS1, HSD17B10, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, SDHC, PANK2, HADHA, OPA3, FH, MTO1, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, LIAS, NDUFB3, NDUFA9, COX14, AGK, DNM1L, DGUOK, BOLA3, DIABLO, PDHB, ALDH6A1, TMEM70, SARS2, NFU1, PCK2, NDUFAF1, HMGCL, TTC19, MTPAP, XPNPEP3, NDUFA10, NUBPL, IDH2, KARS, GFER, TMEM126A, SLC25A12, GAMT, GATM, COX4I2, SDHB, SUCLA2, COQ8A, CYCS, MRPS22, RARS2, ACAD8, DARS2, SLC25A3, PNPLA2, TUFM, TSFM, MRPS16, HTRA2, REEP1, DNAJC19, POLG2, ACADSB, TK2, SLC25A22, GFM1, HADHB, PDP1, UNG, COQ2, SPG7, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, CISD2, SCO2, TYMP, ETHE1, D2HGDH, PUS1, OTC, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, MMADHC, AK2, OAT, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, HIBCH, DBT, MLYCD, SUCLG1, DLAT, OXCT1, IVD, ALDH4A1, SLC25A15, NAGS, L2HGDH, HK1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, CYP27A1, SLC22A5, SLC25A20, PRKN, APTX, SLC25A38, GLRX5, OGDH, PPOX, WWOX, PNKD, TACO1, FARS2, HARS2, SLC6A8, MTFMT, PDHX, SDHA, MGME1, RMRP, SDHD, SACS, GDAP1, ATL1, MT-TL1, MT-ATP6, MT-ND1, MT-ND6, MT-ND4, SPAST, KIF5A, SLC33A1, SPART, SLC19A3, SAMHD1, CLPP, PNPT1, SLC19A2, MT-TS1, MT-TS2, LARS2, MT-RNR1, PDK3, DNA2, ERCC6, DDHD1, FDX2, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, COASY, MARS2, COX10, SCO1, MT-TL2, TPK1, EARS2, HADH, IDH1, COQ8B, HOGA1, IBA57, SLC25A1, COX20, SERAC1, COA5, PET100, CHCHD10, DECR1, UQCRC2, YWHAE, ATP5F1A, MPC1, NDUFB9, CYC1, COX7B, MRPL44, LYRM4, RMND1, SFXN4, BCAT2, CRAT, CEP89
Specificity
1 %
Genes
100 %
|
Single gene testing SLC25A19.
By CeGaT GmbH in Germany.
SLC25A19
Specificity
100 %
Genes
100 %
|
Microcephaly.
By Asper Biogene Asper Biogene LLC in Estonia.
SLC25A19, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1, NHEJ1 , (...)
View the complete list with 4 more genes
SLC25A19, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1, NHEJ1, CEP135, KNL1, CEP63, TUBGCP6
Specificity
5 %
Genes
100 %
|
Brain malformations.
By Asper Biogene Asper Biogene LLC in Estonia.
TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT , (...)
View the complete list with 125 more genes
TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT, ETFB, ETFA, ETFDH, MKS1, PDHX, ARX, CREBBP, DHCR7, WDR62, NBN, FKTN, PEX2, PEX1, POMGNT1, SLC12A6, TMEM216, AHI1, FKRP, WASHC5, DYNC1H1, VRK1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, MCPH1, ASPM, ARFGEF2, CENPJ, DCX, NDE1, PQBP1, RAB3GAP1, RELN, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, PNKP, TCF4, KIF1BP, OFD1, ATRX, OPHN1, CASK, CUL4B, ZEB2, ACTB, ACTG1, LAMC3, TMEM231, FAT4, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, EXOSC3, TSEN34, TSEN2, TUBB2A, CEP152, CDK5RAP2, PCNT, ATR, GPSM2, POMK, GMPPB, PIEZO2, CHMP1A, TUBB4A, RAB3GAP2, AP4M1, KIF11, EFTUD2, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, RAB18, IER3IP1, VLDLR, DHCR24, PIK3R2, AKT3, NHEJ1, TCTN3, OCLN, ZNF423, CCND2, TBC1D20, RTTN, TUBG1, TUBB, KIF5C, KIF2A, ERMARD, SNAP29, LAMB1, CEP135, KNL1, CEP63, AMPD2, SEPSECS, TUBGCP6, CLP1
Specificity
1 %
Genes
100 %
|
Invitae 2-Ketoglutarate Dehydrogenase Deficiency Panel.
By Invitae in United States.
DLD, SLC25A19, OGDH
Specificity
34 %
Genes
100 %
|
Epilepsy and Seizure Disorders: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, NDUFA1, CYP27A1 , (...)
View the complete list with 90 more genes
MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, NDUFA1, CYP27A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, WDR62, TSC2, TSC1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, CACNA1A, KCNJ11, CASR, KCNA1, CACNB4, MCPH1, ASPM, ATP1A2, CHRNB2, CPA6, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, FOLR1, HCN1, KCNT1, KCNQ2, KCNQ3, PNPO, SCN3A, CHRNA2, CHRNA4, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, MBD5, KCNMA1, SCARB2, TBC1D24, PRRT2, BCKDK, CENPJ, DCX, EMX2, NDE1, SIX3, RELN, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, DNAJC5, MFSD8, MAGI2, ST3GAL3, SCN8A, NRXN1, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, PHF6, ARHGEF9, SYN1, OPHN1, ATP6AP2, CASK, ZEB2
Specificity
1 %
Genes
100 %
|
Neurology: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)
View the complete list with 144 more genes
UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22, SLC9A6, ALDH7A1, MKS1, TPP1, CLN3, ARX, CDKL5, DHCR7, FOXG1, MEF2C, PCDH19, SLC2A1, WDR62, TSC2, TSC1, PTCH1, CLN6, CLN8, FKTN, PPT1, POMGNT1, CLN5, TMEM216, CSTB, SCN1A, AHI1, FKRP, FGF8, VRK1, POMT2, POMT1, CACNB4, LARGE1, MCPH1, ASPM, ATP1A2, CHRNB2, CPA6, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, FOLR1, GRIN2B, KCNT1, KCNQ2, KCNQ3, PNPO, CHRNA2, CHRNA4, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, KCNMA1, SCARB2, TBC1D24, PRRT2, BCKDK, ARFGEF2, CENPJ, DCX, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, DNAJC5, MFSD8, MAGI2, ST3GAL3, SCN8A, NRXN1, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, KIF1BP, ATRX, ARHGEF9, SYN1, OPHN1, ATP6AP2, CASK, ZEB2, ACTB, ACTG1, LAMC3, EHMT1, EXOSC3, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, NODAL, FOXH1, GLI2, CDK5RAP2, PCNT, ATR, CHMP1A, RAB3GAP2, TMEM237, TMEM138, RPGRIP1L, KIF7, CEP41, EOMES, RAB18, RBBP8, MYCN, VLDLR, DISP1, RTTN, ZNF335, CEP135, KNL1, CEP63, NIN, CDC6, CDT1, ORC6, ORC4, POC1A, MAPK10
Specificity
1 %
Genes
100 %
|
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3 , (...)
View the complete list with 87 more genes
MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, WDR62, TSC2, TSC1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, CACNA1A, KCNJ11, CASR, KCNA1, CACNB4, MCPH1, ASPM, ATP1A2, CHRNB2, CPA6, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, FOLR1, HCN1, KCNT1, KCNQ2, KCNQ3, PNPO, SCN3A, CHRNA2, CHRNA4, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, MBD5, KCNMA1, SCARB2, TBC1D24, BCKDK, CENPJ, DCX, EMX2, NDE1, SIX3, RELN, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, DNAJC5, MFSD8, MAGI2, ST3GAL3, SCN8A, NRXN1, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, PHF6, ARHGEF9, SYN1, OPHN1, ATP6AP2, CASK, ZEB2
Specificity
1 %
Genes
100 %
|
Epilepsy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)
View the complete list with 323 more genes
MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67, NPHP1, ADGRV1, CEP290, SHH, DLD, POLG, NDUFS4, SLC25A19, PANK2, RAF1, FH, SMPD1, MECP2, COQ9, PDSS2, PDSS1, TMEM70, ABAT, DPM3, GAMT, GATM, STXBP1, COQ8A, RFT1, TUBA1A, RARS2, COG1, COG8, KCNV2, CTSD, SLC25A22, MPDU1, DPM1, COG7, ALG9, ATIC, ALG1, ALG8, ALG2, COQ2, ALG12, B4GALT1, GCSH, GLDC, AMT, SCO2, SLC35A1, ALG6, MPI, ALG3, PDHA1, SLC9A6, HEXA, SUOX, ALDH5A1, HEXB, SLC35C1, ALDH7A1, QDPR, CTSA, NDUFA2, COX15, NDUFS8, NDUFS7, NDUFS3, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFA1, NDUFS1, NDUFV1, GALC, ALDH4A1, SLC25A15, L2HGDH, ETFB, ETFA, ETFDH, GCDH, LRPPRC, MGAT2, PMM2, APTX, TPP1, CLN3, TACO1, SDHA, AGA, ARSB, DOLK, DPAGT1, MOGS, HPD, FGFR3, ARSA, ASPA, ARX, BRAF, CDKL5, EIF2B1, FOXG1, HRAS, IDS, IDUA, KRAS, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PTPN11, RAI1, SHOC2, SLC2A1, SOS1, WDR62, MAP2K2, TSC2, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, PTCH1, GPC3, CLN6, CLN8, FKTN, PEX2, PPT1, PEX7, MLC1, MCOLN1, PEX1, POMGNT1, SLC17A5, SUMF1, ABCC8, CLN5, EIF2B5, PLA2G6, DPYD, TMEM216, EIF2B3, EIF2B2, EIF2B4, CSTB, SCN1A, AHI1, NOTCH3, FKRP, SCN4A, CACNA1A, NF1, KCNJ11, FGF8, CASR, CLCNKB, KCNJ1, VRK1, POMT2, POMT1, KCNA1, CACNB4, LAMA2, LARGE1, MCPH1, ASPM, ATP1A2, CACNA1H, CHRNB2, EFHC1, LGI1, GABRB3, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SCN1B, SCN2A, FOLR1, GABRD, GRIN2B, HCN1, KCNQ2, KCNQ3, PNPO, SCN3A, CHRNA2, CHRNA4, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, MBD5, KCNMA1, SCARB2, SCN5A, TBC1D24, PRRT2, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, MFSD8, KMT2D, MAGI2, SCN8A, NRXN1, GRIN1, PIGV, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, SERPINI1, OFD1, SMS, ATRX, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2, PEX6, FUCA1, PEX14, PEX3, PEX26, PEX12, PEX5, KAT6B, CLCNKA, NEU1, SPRED1, CCL2, CLCN2, VANGL1, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, ABCB1, NODAL, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR, GNPTG, GLI3, SCN2B, SCN3B, SCN4B, PGK1, RPGRIP1L, ARL13B, SLC46A1, NHEJ1, LIG4, SNAP29, MED17, ACY1, COL18A1, MAPK10, BUB1B, SCN10A, GLRB, GLRA1, SLC6A5, GPHN, CELSR1, EFHC2
Specificity
1 %
Genes
100 %
|
Microcephaly NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
SLC25A19, DNM1L, RARS2, WDR62, MRE11, VRK1, POMT1, MCPH1, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, TSEN34, TSEN2, CEP152 , (...)
View the complete list with 15 more genes
SLC25A19, DNM1L, RARS2, WDR62, MRE11, VRK1, POMT1, MCPH1, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, TSEN34, TSEN2, CEP152, CDK5RAP2, PCNT, KIF11, EFTUD2, IER3IP1, AKT3, NHEJ1, LIG4, MED17, CEP135, CEP63, TUBGCP6, BUB1B, NR2E1, MSMO1
Specificity
3 %
Genes
100 %
|
Nuclear-Mito NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)
View the complete list with 484 more genes
HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB, HLCS, ATP5F1E, ATP7B, ATP8B1, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, MMACHC, STAR, ELAC2, SDHAF2, ELN, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, KRT5, ABCB6, TRMU, CASP8, PYCR1, CLCN7, DTNBP1, WFS1, COMT, PRODH, HSD17B10, FOXC1, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, CYP11B1, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, SDHC, PANK2, HADHA, OPA3, FH, MECP2, CYP11B2, MTO1, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, HARS, LIAS, NDUFB3, GPD1, NDUFA9, COX14, AGK, ALDH18A1, DNM1L, DGUOK, BOLA3, ACSF3, GPX1, DIABLO, LDHB, PDHB, ALDH6A1, ACAT2, TMEM70, SARS2, NFU1, PCK2, NDUFAF1, HMGCL, HSD3B2, TTC19, MTPAP, XPNPEP3, TAT, NDUFA10, NUBPL, G6PC, CYP24A1, CYP11A1, SCP2, IDH2, KARS, SPTLC2, GPI, ABAT, GFER, TMEM126A, SLC25A12, LDHA, ENO3, GATM, SPR, COX4I2, RPL35A, SDHB, SUCLA2, CYCS, MRPS22, GYS1, RARS2, ACAD8, DARS2, SLC25A3, TUFM, TSFM, MRPS16, HTRA2, ALDH2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, SECISBP2, TK2, SLC25A22, GFM1, HADHB, PDP1, ATIC, UNG, NDUFA13, UCP2, COQ2, SPG7, GLUD1, PCCB, PCCA, HMGCS2, GCSH, GLDC, AMT, DMGDH, CISD2, TAP1, SCO2, GAD1, TYMP, ETHE1, UCP1, UCP3, PPARGC1B, RNASEL, D2HGDH, PUS1, AGPS, OTC, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, ACSL4, ABCD1, MMADHC, SUOX, ALDH5A1, ALDH3A2, SARDH, AK2, PHYH, ALDH7A1, CYP27B1, PGAM2, PTS, QDPR, PAH, AGXT, TCIRG1, OAT, NME1, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, CYB5A, HIBCH, DBT, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, ALDH4A1, SLC25A15, NAGS, L2HGDH, HK1, CYBA, ETFB, ETFA, ETFDH, GCDH, FXN, GLYCTK, LRPPRC, FASTKD2, COX6B1, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PRKN, APTX, SLC25A38, GLRX5, TPP1, CLN3, ANKRD26, SLC22A4, FECH, PPOX, OGG1, WWOX, MEN1, GPD2, CPOX, PNKD, AKAP10, PHB, TACO1, FARS2, HARS2, SLC6A8, MTFMT, PDHX, SDHA, SUGCT, MOGS, CPT1B, CFTR, CDKL5, FOXG1, DMPK, SLC2A1, SDHD, CLN6, CLN8, G6PD, CYBB, PEX2, PPT1, PEX7, SACS, PEX1, ABCC8, CLN5, GDAP1, SCN1A, CLCN1, SCN4A, ATXN7, CACNA1A, LRRK2, KCNJ11, PDX1, CLCNKB, SPAST, SPART, CACNA1S, RYR1, KCNJ2, KCNA1, TDP1, CHRNB2, KCNH2, SCN1B, SCN2A, FOLR1, KCNQ2, KCNQ3, CHRNA4, SCN5A, DNAJC5, MFSD8, CACNA2D1, NRXN1, SLC19A2, LARS2, KCNE1, KCNQ1, PEX6, NARS2, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PKLR, UROS, CLCN2, ABCC9, ANK2, RYR2, KCNE2, RSPH9, TFAM, PGK1, GNPAT, GNAS, TXNRD2, IMMP2L, ACACB, TFB1M, MRRF, NDUFS5, MARS2, COX4I1, NDUFA8, NDUFA7, NDUFV3, NDUFB6, COX10, SCO1, EARS2, DDC, HADH, AKT2, IDH1, INSR, AKT1, TPI1, HOGA1, PREPL, MED23, CLCN5, AAAS, COQ4, PMPCA, COA5, SLC27A4, FTH1, PEX11B, NTHL1, GLRA1, NOS3, BCL2, PCK1, DECR1, ABCD3, GPX4, NDUFB9, MOCOS, DISC1, CDC42BPB, FASN, NDUFA4, COQ5, PARP1, TXN2, MTHFD1, TIMM44, HSPA9, BCAT2, BCAT1, ARMS2, ACHE, TOMM40, TPH2, MDH1, MTHFS, MTHFD1L, FPGS, SHMT1, H6PD, GAD2, GLO1, HIGD2A, HSPB7, HSD3B1, NDUFA6, GLS, ECSIT, ECI1, HK2, NDUFB1, ATP10D, DMAC2, ACSL5, ACSM3, AS3MT, PPARGC1A, PTGES2, POLRMT, RAB11FIP5, MAVS, LETM1, IMMT, IDE, NIPSNAP3A, CLYBL, CHDH, CNR1, SIRT5, SLC25A39, SIRT1, SIRT3, TST, TOP1MT, USP24, NIPSNAP1, CKM, NPL, MGLL, MGST3, AGXT2, AKR7A2, MTCH2, MRPL48, BAX, MAOB, DDAH1, COX7A2, ENO1, GPAM, FAAH, TSPO, KYNU, PARL, ACLY, NDUFC2, NLRX1, PACRG, PAK5, PNMT
Specificity
1 %
Genes
100 %
|
SLC25A19.
By Fulgent Genetics Fulgent Genetics in United States.
SLC25A19
Specificity
100 %
Genes
100 %
|
Comprehensive Epilepsy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)
View the complete list with 427 more genes
MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67, NPHP1, ADGRV1, CEP290, SHH, ME2, DLD, POLG, NDUFS4, SLC25A19, PANK2, RAF1, FH, SMPD1, MECP2, COQ9, PDSS2, PDSS1, LIAS, BOLA3, TMEM70, ABAT, SLC25A12, DPM3, GAMT, GATM, STXBP1, COQ8A, RFT1, TUBA1A, RARS2, COG1, COG8, KCNV2, CTSD, SLC25A22, MPDU1, DPM1, COG7, ALG9, ATIC, ALG1, ALG8, ALG2, GRN, COQ2, ALG12, B4GALT1, GLUD1, GCSH, GLDC, AMT, SCO2, SLC35A1, ALG6, MPI, ALG3, PDHA1, SLC9A6, HEXA, SUOX, ALDH5A1, HEXB, SLC35C1, ALDH7A1, QDPR, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFA1, NDUFS1, NDUFV1, GALC, ALDH4A1, SLC25A15, L2HGDH, ETFB, ETFA, ETFDH, GCDH, LRPPRC, MGAT2, PMM2, APTX, TPP1, CLN3, WWOX, TACO1, FARS2, SLC6A8, SDHA, AGA, ARSB, DOLK, DPAGT1, MOGS, HPD, FGFR3, ARSA, ASPA, ARX, BRAF, CDKL5, CHRNA7, DHCR7, EIF2B1, FOXG1, HRAS, IDS, IDUA, KRAS, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PTPN11, RAI1, SHOC2, SLC2A1, SOS1, WDR62, MAP2K2, TSC2, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, PTCH1, GPC3, CLN6, CLN8, FKTN, PEX2, PPT1, PEX7, MLC1, MCOLN1, PEX1, POMGNT1, SLC17A5, SUMF1, ABCC8, CLN5, EIF2B5, PLA2G6, DPYD, TMEM216, EIF2B3, EIF2B2, EIF2B4, CSTB, SCN1A, AHI1, NOTCH3, FKRP, SCN4A, CACNA1A, NF1, KCNJ11, FGF8, CASR, CLCNKB, KCNJ1, DYNC1H1, VRK1, POMT2, POMT1, KCNA1, CACNB4, SLC1A3, LAMA2, DPM2, LARGE1, MCPH1, ASPM, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, KCNH2, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, STX1B, SLC35A2, SLC6A1, FOLR1, GABRB2, GABRD, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, MBD5, KCNMA1, SCARB2, SCN5A, SLC4A10, ALG13, TBC1D24, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, CTSF, DNAJC5, MFSD8, ATP13A2, KMT2D, RBFOX1, CACNA2D2, MAGI2, HNRNPU, TBL1XR1, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, NR2F1, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGV, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, SERPINI1, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2, PEX6, FUCA1, NTNG1, MED12, PEX14, PEX3, PEX26, PEX12, PEX5, KAT6B, CLCNKA, NEU1, UBE2A, CLCN4, SPRED1, CCL2, CLCN2, NEDD4L, MTOR, VANGL1, TSEN34, TSEN2, TUBB2A, TGIF1, ZIC2, CEP152, ABCB1, NODAL, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR, GNPTG, GLI3, SCN2B, SCN3B, SCN4B, KDM6A, SMARCA2, ADAR, PGK1, RPGRIP1L, ARL13B, COX10, SLC46A1, AKT3, NHEJ1, LIG4, ASNS, SNAP29, CCDC88C, MED17, ANK3, C12orf57, KCNH5, ACY1, COL18A1, MAPK10, BUB1B, SCN10A, DHFR, GLRB, GLRA1, SLC6A5, HDAC4, SLC12A5, GPHN, SRGAP2, TNK2, HCN2, GABBR2, RYR3, FASN, PIK3AP1, ARHGEF15, CNTN2, KPNA7, RBFOX3, BRD2, VDAC1, UBR5, NIPA2, CELSR1, EFHC2, RANGAP1, KCNAB2, HNRNPH1
Specificity
1 %
Genes
100 %
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Thiamine Metabolism Dysfunction Syndrome 4 (bilateral Striatal Degeneration And Progressive Polyneuropathy Type); Thmd4 Is also known as bilateral striatal degeneration and progressive polyneuropathy, striatal necrosis, bilateral, and progressive polyneuropathy;.