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Panel Name, Specifity and genes Tested/covered |
Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
BCS1L, SCO2, SUCLA2, SUCLG1, SURF1, TSFM, FBXL4, GFM1, GTPBP3, LRPPRC, NDUFAF5, SLC19A3, LIAS, TPK1, NUBPL, NDUFAF4, SERAC1, FARS2, PDHX, COX10 , (...)
View the complete list with 43 more genes
BCS1L, SCO2, SUCLA2, SUCLG1, SURF1, TSFM, FBXL4, GFM1, GTPBP3, LRPPRC, NDUFAF5, SLC19A3, LIAS, TPK1, NUBPL, NDUFAF4, SERAC1, FARS2, PDHX, COX10, COX15, COX8A, PDSS2, PNPT1, ETHE1, NDUFA12, TACO1, COQ9, TTC19, NARS2, C12orf65, FOXRED1, NDUFAF2, NDUFAF6, DLAT, DLD, EARS2, LIPT1, UQCRQ, MTFMT, GFM2, IARS2, ECHS1, SDHAF1, PET100, HIBCH, NDUFA1, NDUFA10, NDUFA2, NDUFA4, NDUFA9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV2, AIFM1, PDHA1, PDHB, POLG
Specificity
2 %
Genes
100 %
|
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...)
View the complete list with 154 more genes
BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB, UQCRC2, FBXL4, GFM1, MRPS16, ELAC2, MRPS7, MRPS22, MRPS23, GTPBP3, PUS1, LRPPRC, NDUFAF5, APTX, SFXN4, MGME1, SLC19A3, NFU1, LIAS, MRPL44, COQ8A, MFN2, LARS2, NDUFA13, RRM2B, TPK1, SARS2, PDSS1, COA6, RNASEH1, ATPAF2, NDUFAF1, COQ8B, MTO1, COQ4, ISCA2, COQ6, NUBPL, TRIT1, NDUFA11, NDUFB11, APOPT1, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, UQCC2, PDHX, LYRM4, RARS2, ACAD9, VARS2, AGK, COQ7, COX10, COX15, COX6A1, COX6B1, COX7B, COX8A, PDSS2, TRMT5, PNPT1, ETHE1, NDUFA12, YARS2, TACO1, BOLA3, FLAD1, COA3, MARS2, COQ2, COQ9, TRMU, MTPAP, DARS2, CARS2, COA7, CYC1, TTC19, TRMT10C, TMEM70, NSUN3, NARS2, C12orf65, FOXRED1, COX20, IBA57, LYRM7, NDUFAF2, COX14, DGUOK, NDUFAF6, COQ5, DLAT, DLD, FASTKD2, DNA2, EARS2, LIPT1, UQCRQ, MTFMT, GFM2, IARS2, ISCU, NDUFAF3, PARS2, TARS2, TMEM126B, TYMP, AFG3L2, ECHS1, COA5, SDHAF1, UQCC3, ETFA, ETFB, ETFDH, PET100, GARS, GFER, HADHA, HADHB, HARS2, HIBCH, KARS, MPV17, NDUFA1, NDUFA10, NDUFA2, NDUFA4, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, OPA1, OPA3, ATP5F1A, ATP5F1E, AIFM1, PDHA1, PDHB, POLG, POLG2, PDP1
Specificity
1 %
Genes
100 %
|
Neurogenetic Disorders - panels.
By MGZ Medical Genetics Center (Germany).
BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)
View the complete list with 572 more genes
BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC1A4, SLC22A5, SLC25A12, SLC25A15, SLC25A3, SLC25A4, SLC2A1, SLC6A3, SLC6A5, SLC6A8, KDM5C, SNAP25, SNCA, SIK1, SOX10, SPG11, ATL1, SPAST, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, STAT2, CDKL5, STUB1, STXBP1, SUCLA2, SUCLG1, SURF1, SYNGAP1, SYNJ1, TAF1, TALDO1, TARDBP, TAZ, TBK1, TWNK, TFG, TH, TIMM8A, NKX2-1, TK2, ACOX1, TREX1, TSFM, TTPA, TTR, TUBB2A, TUFM, UBE3A, UBQLN2, UQCRB, UQCRC2, USP8, VAMP1, VCP, WFS1, WWOX, XK, XRCC4, MCOLN1, VPS35, ATP8A2, ERLIN2, FBXO7, FBXL4, AAAS, GFM1, CACNA1A, CACNA1B, CACNA1C, CACNA1G, CACNA1H, PRDM8, ANO3, CACNB4, MRPS16, NPRL3, SLC25A20, CAD, PCDH19, SLC25A19, ELOVL4, MRPS7, ACTG2, MRPS22, NPC2, ARHGEF9, PINK1, VPS11, GTPBP3, SNX14, CASR, MICU1, GPHN, PUS1, CHCHD10, ARHGEF15, NBAS, LRPPRC, BSCL2, ABHD12, PANK2, NDUFAF5, NOP56, PLCB1, SAMHD1, GDAP1, APTX, CCT5, SLC52A3, MGME1, COX4I2, TGM6, SLC19A3, PNPLA6, NFU1, PARK7, NLRP3, EFHC1, SCARB2, MRPL44, MCEE, CIZ1, COQ8A, MFN2, DGAT2, ERLIN1, STAMBP, CLP1, PRICKLE1, EXOSC8, NIPA1, MLC1, SYNE1, LARS2, RAB3GAP2, NDUFA13, BICD2, ZFR, RRM2B, TRNT1, TPK1, GJC2, SARS2, ACY1, PDSS1, TXN2, EXOSC3, REEP2, ARX, SPATA5, PRIMA1, DEPDC5, RNASEH1, SPART, RNASEH2A, STX1B, CPT1C, LRRK2, PMPCA, ATPAF2, NDUFAF1, KCNT1, MMAA, GBA2, COQ8B, VPS13A, CHAT, PSAT1, TTBK2, CHD2, DOCK7, MTO1, MMAB, KIF21A, CHKB, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, LYST, COQ4, DDHD1, ISCA2, SLC25A22, TECPR2, CHD8, POLR1C, CLCN2, CLCN4, COQ6, NUBPL, TRIT1, PRICKLE2, NDUFA11, NDUFB11, SPG21, SUMF1, MBD5, APOPT1, L2HGDH, CYP2U1, SLC25A26, TPP1, CLN3, CLN5, ZFYVE26, CLN6, TUBB3, TUBB4A, CLN8, CLPP, THAP1, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, FA2H, PDHX, ABHD5, RARS2, ACAD9, NHLRC1, VARS2, RNASET2, RNF216, AGK, KCTD7, COL4A1, COL4A2, COL6A3, AP5Z1, PTCD1, COLQ, COQ7, ADAR, COX10, COX15, COX6B1, GMPPB, COX8A, CP, PEX26, PDSS2, SLC13A5, TRMT5, ALG2, PNPT1, UBA5, CPT1A, ETHE1, CPT2, ADCY5, NDUFA12, RNASEH2C, YARS2, PTRH2, TACO1, CSF1R, BOLA3, MMACHC, CHMP2B, FAM126A, SIL1, FLAD1, CSTB, VPS37A, MARS2, SLC25A46, COQ2, COQ9, SLC30A10, TMEM126A, TANGO2, C19orf12, TRMU, ANO10, MTPAP, DARS2, RNASEH2B, CARS2, KCTD17, PGAP1, DCAF17, REEP1, RETREG1, TTC19, SDHAF2, CYP27A1, TMEM70, SLC25A38, NARS2, HEPACAM, CYP7B1, ZFYVE27, DOK7, C12orf65, FOXRED1, DBT, IBA57, TSEN54, SLC6A19, LYRM7, NDUFAF2, CCDC115, COX14, ALG14, SLC25A42, DGUOK, NDUFAF6, WDR45, DLAT, DLD, WASHC5, RUBCN, DDHD2, FASTKD2, TBC1D24, EPG5, DNA2, EARS2, TOR1AIP1, UQCRQ, MTFMT, IARS2, DNM2, DNMT1, ISCU, NDUFAF3, COASY, DPAGT1, PIK3R5, DPM2, POLR3A, ATP13A2, SLC52A2, PREPL, PNPO, PYCR2, POLR3B, PRRT2, DNAJC19, FDX2, PARS2, SEPSECS, CLPB, TARS2, PNPLA2, DYRK1A, WDR48, TOR1A, TYMP, AFG3L2, ECHS1, EEF1A2, AGL, EEF2, ARSI, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, AGRN, ENTPD1, SDHAF1, EPM2A, ETFA, ETFB, ETFDH, FGF14, FLRT1, FOLR1, FOXG1, FXN, ALAS2, FTL, FUCA1, ALDH3A2, GABRA1, GABRD, GABRG2, GAD1, GALC, B4GALNT1, GAMT, GAN, GARS, GBA, GBE1, GCDH, GCH1, GFAP, GFER, GFPT1, GJA1, GLDC, GLRA1, GLRB, GNAL, ALS2, GOSR2, SETX, AMACR, GRID2, GRIK2, GRIN2A, GRM1, GRN, GTPBP2, AMPD2, HADH, ABCB7, HARS2, HCFC1, HCN1, HEXA, HEXB, HIBCH, MR1, HNRNPDL, HNRNPU, HPCA, HSD17B4, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, APOE, ITPR1, IVD, APP, KARS, KCNA1, KCNA4, KCNC1, KCNC3, KCND3, KCNH5, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KIF1C, KIF5A, L1CAM, LAMA2, LAMP2, LARS, LGI1, ARG1, LMNB1, LMNB2, LRP4, MAG, MAPT, MARS, ARL6IP1, MECP2, MEF2C, ARSA, MOCS1, MOCS2, MPV17, MRE11, ASAH1, MTHFR, MTM1, ASL, MTTP, MUSK, MMUT, MYBPC1, ASPA, ASS1, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NOL3, NOTCH3, NPC1, ATM, ATP1A2, ATP1A3, NT5C2, OPA1, OPA3, ATP2B4, ATP5F1A, ATP5F1E, OTC, PRKN, PC, PCCA, PCCB, ATP7B, AIFM1, ALDH7A1, PDE8B, PDGFB, PDHA1, PDHB, PDYN, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, KIF1A, ACADM, AUH, PHGDH, PHYH, ACADS, PLA2G6, PLP1, PNKD, PNKP, PODXL, POLG, POLG2, ACADVL, PDP1, PPP2R2B, PPT1, PPT2, PRKCG, PRKRA, DNAJC3, PRNP, LONP1, PSAP, SLC33A1, PSEN1, PSEN2, PEX19, PEX2, PEX5, ALDH18A1, QARS, RANBP2, BCKDHA, RAPSN, BCKDHB, RARS, RELN
Specificity
1 %
Genes
100 %
|
Combined oxidative phosphorylation deficiency type 23.
By Centogene AG - the Rare Disease Company (Germany).
GTPBP3
Specificity
100 %
Genes
100 %
|
GTPBP3.
By Fulgent Genetics Fulgent Genetics (United States).
GTPBP3
Specificity
100 %
Genes
100 %
|
Cardiomyopathy Panel.
By Blueprint Genetics (Finland).
RIT1, RRAS, RYR2, SCN5A, SCNN1B, SCNN1G, SCO2, SDHA, SGCA, SGCB, SGCD, SGCG, SLC22A5, BRAF, SLC25A4, SOS1, SOS2, TAZ, TBX20, TBX5 , (...)
View the complete list with 133 more genes
RIT1, RRAS, RYR2, SCN5A, SCNN1B, SCNN1G, SCO2, SDHA, SGCA, SGCB, SGCD, SGCG, SLC22A5, BRAF, SLC25A4, SOS1, SOS2, TAZ, TBX20, TBX5, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TSFM, MYOT, TTN, TTR, VCL, VCP, XK, ACTA1, GFM1, PRDM16, ELAC2, JPH2, SLC25A20, ACTC1, CAPN3, GTPBP3, CASQ2, CBL, SHOC2, LDB3, RBCK1, SELENON, TRIM32, ACTN2, FBXO32, HCN4, SPEG, TAB2, ALPK3, CDH2, FKRP, VPS13A, MTO1, TNNI3K, SPRED1, LRRC10, CALR3, AARS2, RMND1, ACAD9, AGK, COX15, GMPPB, MYPN, CPT2, DOLK, CRYAB, CSRP3, CTNNA3, TMEM70, DBH, FOXRED1, ANO5, RBM20, DES, NDUFAF2, TMEM43, PPA2, SMCHD1, PLEKHM2, DMD, EPG5, TOR1AIP1, NEXN, GATAD1, DSC2, DSG2, DSP, DNAJC19, DTNA, PNPLA2, DYSF, EEF1A2, AGL, EMD, ETFA, ETFB, ETFDH, FKTN, FHL1, ISPD, FLNC, FOXD4, FXN, GAA, GATA6, GBE1, ALMS1, GLA, GLB1, GUSB, HADHA, HAND1, HFE, HRAS, ABCC6, ABCC9, JUP, KRAS, LAMA2, LAMP2, LARGE1, LMNA, LZTR1, MAP2K1, MAP2K2, MLYCD, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, NF1, NRAS, PCCA, PCCB, PKP2, PLEC, PLN, ACADVL, PPP1CB, PRKAG2, BAG3, PTPN11, RAF1, RASA2
Specificity
1 %
Genes
100 %
|
Comprehensive Cardiology Panel.
By Blueprint Genetics (Finland).
RIT1, RRAS, RYR2, SCN10A, SCN1B, SCN5A, SCNN1B, SCNN1G, SCO2, SDHA, SGCA, SGCB, SGCD, SGCG, SLC22A5, BRAF, SLC25A4, SOS1, SOS2, TAZ , (...)
View the complete list with 163 more genes
RIT1, RRAS, RYR2, SCN10A, SCN1B, SCN5A, SCNN1B, SCNN1G, SCO2, SDHA, SGCA, SGCB, SGCD, SGCG, SLC22A5, BRAF, SLC25A4, SOS1, SOS2, TAZ, TBX20, TBX5, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TSFM, MYOT, TTN, TTR, VCL, VCP, XK, ACTA1, ACTA2, GFM1, CACNA1C, CACNA2D1, PRDM16, CACNB2, ELAC2, JPH2, SLC25A20, ACTC1, CALM1, CALM2, CALM3, CAPN3, GTPBP3, CASQ2, CAV3, CBL, SHOC2, LDB3, GATA5, RBCK1, SALL4, SELENON, TRIM32, ACTN2, FBXO32, NOS1AP, HCN4, SPEG, TAB2, ALPK3, CDH2, TRPM4, FKRP, VPS13A, MTO1, TNNI3K, SPRED1, LRRC10, CALR3, SCN3B, AARS2, RMND1, ACAD9, AGK, COX15, GMPPB, MYPN, CPT2, DOLK, CRYAB, CSRP3, NKX2-5, CTNNA3, TMEM70, DBH, FOXRED1, ANO5, TECRL, RBM20, DES, NDUFAF2, TMEM43, PPA2, SMCHD1, PLEKHM2, DMD, EPG5, TOR1AIP1, NEXN, GATAD1, DSC2, DSG2, DSP, DNAJC19, DTNA, PNPLA2, DYSF, EEF1A2, AGL, EMD, ENPP1, ETFA, ETFB, ETFDH, FKTN, FHL1, ISPD, FLNC, AKAP9, FOXD4, FXN, GAA, GATA6, GBE1, ALMS1, GLA, GLB1, GUSB, HADHA, HAND1, HFE, ANK2, HRAS, ABCC6, ABCC9, JUP, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, KRAS, LAMA2, LAMP2, LARGE1, LMNA, LZTR1, MAP2K1, MAP2K2, MLYCD, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, NF1, NRAS, NUP155, PCCA, PCCB, PKP2, PLEC, PLN, ACADVL, POMT1, PPP1CB, PRKAG2, BAG3, PTPN11, RAF1, RASA2
Specificity
1 %
Genes
100 %
|
Epileptic Encephalopathy Panel.
By Blueprint Genetics (Finland).
SCN1A, SCN1B, SCN2A, SCN8A, SCO1, ST3GAL3, ST3GAL5, SLC25A1, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYNJ1 , (...)
View the complete list with 108 more genes
SCN1A, SCN1B, SCN2A, SCN8A, SCO1, ST3GAL3, ST3GAL5, SLC25A1, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYNJ1, TBCD, TBCE, TCF4, TREX1, TSC1, TSC2, UBE3A, WWOX, SLC12A5, CNTNAP2, CACNA1A, PCDH19, ARHGEF9, GTPBP3, ZEB2, CASK, GPHN, LRPPRC, PLCB1, SAMHD1, SLC19A3, MRPL44, ARX, RNASEH2A, KCNT1, CHD2, DOCK7, SLC25A22, CLCN4, NUBPL, MBD5, APOPT1, NACC1, SERAC1, FARS2, RMND1, BRAT1, ADAR, COX6B1, ABAT, SLC13A5, UBA5, ETHE1, CPT2, NECAP1, RNASEH2B, TTC19, FAR1, HEPACAM, UNC80, DCX, LYRM7, TBCK, D2HGDH, NDUFAF6, WDR45, SZT2, ADSL, TBC1D24, ROGDI, MTFMT, DNM1, DNM1L, HECW2, PNPO, ALG13, ECHS1, EEF1A2, SDHAF1, FGF12, FLNA, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GLDC, GNAO1, GRIN1, GRIN2A, GRIN2B, AMT, HCN1, HTT, HIBCH, HNRNPU, KCNA2, KCNB1, KCNQ2, KCNQ3, MECP2, MEF2C, MOCS1, MTHFR, ASNS, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NRXN1, ALDH7A1, KIF1A, PIGA, PNKP, POLG, PURA
Specificity
1 %
Genes
100 %
|
You can check the following sources for additional information.