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Mitocondriopatias |
Painel por Sequenciamento de Próxima Geração |
AARS2, ACAD9, AIFM1, APOPT1, ATP5A1, ATP5E, ATPAF2, BCS1L, BOLA3, C12ORF65, C1QBP, CARS2, CHCHD10, COX10, COX14, COX15, COX20, COX6B1, CYC1, DARS2, DGUOK, DNA2, EARS2, ECHS1, ELAC2, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FOXRED1, GFER, GFM1, GTPBP3, HADHA, HADHB, IBA57, ISCA1, ISCA2, ISCU, LIAS, LIPT2, LRPPRC, LYRM4, LYRM7, MARS2, MGME1, MICOS13, MPC1, MPV17, MRPL3, MRPL44, MRPS16, MRPS2, MRPS22, MRPS34, MRSP7, MSTO1, MTFMT, MTO1, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, PCK2, PET100, PNPLA8, PNPT1, POLG, POLG2, PUS1, RMND1, RNASEH1, RRM2B, SCO1, SDHA, SDHAF1, SDHD, SFXN4, SLC25A26, SLC25A3, SLC25A4, SUCLA2, SUCLG1, SUOX, SURF1, TACO1, TANGO2, TARS2, TIMMDC1, TK2, TMEM126B, TMEM70, TRIT1, TRMT10C, TRMT5, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WARS2, YARSS, MTND1, MTND2, MTCO1, MTCO2, MTATP8 |
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Colestase Intra-Hepática Progressiva Familiar (PFIC) |
Painel por Sequenciamento de Próxima Geração |
ABCB11, ABCB4, ABCC2, ACTG2, ADA, ADK, AICDA, AKR1D1, ALDOB, ATP7B, ATP8B1, ATRX, BAAT, BTK, CC2D2A, CD3G, CD40LG, CDX1, CFTR, CLDN1, CLMP, COG7, COL7A1, CTLA4, CYBA, CYBB, CYP27A1, DCDC2, DCLRE1C, DES, DGUOK, DMD, DOCK8, EDN3, EDNRB, EPCAM, FAH, FAM58A, FANCB, FERMT1, FLNA, FOXF1, FOXP3, G6PC3, GALT, GBA, GBE1, GLI3, GUCY2C, HADHA, HNF1B, HPS1, HPS4, HPS6, HSD3B7, ICOS, IDS, IKBKG, IL10, IL10RA, IL10RB, IL2RA, IL2RG, INVS, ITGB2, JAG1, KIF1BP (KIAA1279), L1CAM, LIG4, LIPA, LRBA, MED12, MEFV, MID1, MNX1, MPI, MPV17, MVK, MYO5B, NCF1, NCF2, NOTCH2, NPC1, NPC2, NR1H4, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX6, PHOX2B, PIK3CD, POLG, PTEN, RAG1, RAG2, RECQL4, RET, RRM2B, RTEL1, SALL1, SAMD9, SCN11A, SH2D1A, SKIV2L, SLC25A13, SLC37A4, SMPD1, SOX10, STAT1, STAT3, STXBP2, TALDO1, TGFBR1, TGFBR2, TJP2, TMEM70, TRMU, TTC37, TTC7A, TYMP, UGT1A1, VIPAS39, VPS33B, WAS, XIAP, ZEB2. ZIC3 |
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Ataxias |
Painel por Sequenciamento de Próxima Geração |
ABHD12, ACO2, AFG3L2, ANO10, APOB, APTX, ATCAY, ATM, ATP8A2, BEAN1, CACNA1A, CACNA1G, CACNB4, CCDC88C, CLCN2, CLN5, COQ2, COQ8A, CYP27A1, DNMT1, ELOVL4, FGF14, FLVCR1, FXN, GOSR2, GRM1, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, LAMA1, MRE11, MTTP, NOP56, NPC1, NPC2, PDSS1, PDSS2, PDYN, PEX7, PHYH, PMPCA, PNKP, PNPLA6, POLG, PRKCG, PTF1A, RUBCN, SACS, SCN2A, SETX, SIL1, SLC1A3, SPG7, SPTBN2, SYNE1, SYT14, TDP1, TGM6, TPP1, TTBK2, TTPA, TWNK, TXN2, VLDLR, WDR73, WFS1, WWOX |
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Demências |
Painel por Sequenciamento de Próxima Geração |
A2M, ABCD1, ACE, APBB2, APOE, APP, ARSA, ATP13A2, ATP1A3, ATP7B, BIN1, BLMH, C9ORF72, CD2AP, CD33, CHCHD10, CHMP2B, CLU, CR1, CSF1R, CST3, CYP27A1, DCTN1, DNAJC6, DNMT1, EIF4G1, EPHA1, FBXO7, FTL, FUS, GALC, GBA, GCDH, GCH1, GFAP, GLA, GRN, HEXA, HFE, HNRNPA1, HNRNPA2B1, HSD17B10, HTRA2, ITM2B, LMNB1, LRRK2, MAPK10, MAPT, MATR3, MLYCD, MPO, MS4A2, MS4A6, MS4A6E, NOS3, NOTCH3, NPC1, NPC2, OPTN, PANK2, PARK2, PARK7, PINK1, PLA2G6, PLAU, PNKD, POLG, PPT1, PRKRA, PRKAR1B, PRNP, PRRT2, PSAP, PSEN1, PSEN2, SIGMAR1, SGCE, SLC2A1, SLC6A3, SNCA, SNCB, SORL1, SPG11, SPG21, SPR, SQSTM1, TARDBP, TBK1, TBP, TH, THAP1, TOMM40, TOR1A, TREM2, TUBA4A, TYROBP, UBQLN2, UCHL1, VCP, VPS35 |
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Ataxia Espinocerebelar |
Painel por Sequenciamento de Próxima Geração |
SLC52A2, COG5, SLC25A46, KCNC1, FAT2, PLD3, SCYL1, UBA5, KIF26B, EP300, FAT1, XRCC1, VPS13D, FA2H, AAAS, ABCB7, ABHD5, ABHD12, ACADVL, ACO2, ADCK3, AFG3L2, AMPD2, ANO10, AP1S2, APOB, APTX, ARSA, ATCAY, ATM, ATN1, ATP1A3, ATP8A2, ATP2B3, C10ORF2, CA8, CACNA1G, CACNB4, CAMTA1, CASK, CCDC88C, CHMP1A, CLCN2, CLN5, CLN6, COQ2, COX20, CP, CWF19L1, CYP27A1, CYP2U1, DARS2, DDHD2, DNAJC5, DNMT1, DRD3, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EPM2A, EXOSC3, FGF14, FLVCR1, FMR1, FOLR1, FUS, FXN, GBA2, GFAP, GJC2, GOS, GOSR2, GRID2, GRM1, HEXA, HEXB, IFRD1, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1C, LAMA1, MARS2, MMACHC, MRE11A, MTPAP, MTTP, NHLRC1, NPC1, NPC2, OPHN1, PAX6, PDSS1, PDSS2, PDYN, PEX7, PEX16, PHYH, PLA2G6, PMPCA, PNKP, PNPLA6, POLG, POLR3A, PRKCG, PRNP, PRRT2, PTF1A, RARS2, RUBCN, RNF170, RNF216, SACS, SAR1B, SCN2A, SEPSECS, SETX, SIL1, SLC1A3, SLC2A1, SLC9A6, SNX14, SPG7, SPTBN2, SRD5A3, STUB1, SYNE1, SYT14, TDP1, TGM6, TENM4, TMEM240, TPP1, TSEN2, TSEN54, TTBK2, TTC19, TTPA, TUBB4A, T |
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Parkinson Hereditario |
Painel por Sequenciamento de Próxima Geração |
A2M, AAAS, ABCD1, ACE, ACMSD, ADH1C, APOE, APP, ARSA, ATP13A2, ATP1A3, ATP7B, ATXN2, CHCHD2, CHMP2B, CSF1R, CYP27A1, DCTN1, DNAJC13, DNAJC6, DNMT1, EIF4G1, FBXO7, FUS, GALC, GBA, GCH1, GFAP, GIGYF2, GLA, GLUD2, GRN, HEXA, HTRA2, ITM2B, LMNB1, LRRK2, MAPT, MPO, NOTCH3, NPC1, NPC2, PANK2, PARK7 (DJ1), PINK1, PLA2G6, PNKD, PODXL, POLG, PPT1, PRKAG2, PRKN (PARK2), PRKRA, PRNP, PRRT2, PSAP, PSEN1, PSEN2, PTRHD1, RAB39B, RIC3, SGCE, SLC2A1, SLC30A10, SLC6A3, SNCA, SNCB, SPG11, SPR, SQSTM1, SYNJ1, TAF1, TARDBP, TBP, TH, THAP1, TMEM230, TOR1A, TREM2, TYROBP, UBQLN2, UCHL1, VCP, VPS13C, VPS35 |
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Epilepsia, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
CACNA1A, CASR, GABRD, ASAH1, KCNMA1, ME2, PRICKLE2, SLC4A10, SMC1A, SPR, ST3GAL3, ST3GAL5, SUOX, UBR5, WFS1, ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, ATP1A2, CACNA2D2, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DEPDC5, DNAJC5, DYNC1H1, EFHC1, EPM2A, FOLR1, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, KANSL1, KCNH2, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, LIAS, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, QARS, RBFOX1, ROGDI, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SPTAN1, STXBP1, SYN1, SYNGAP1, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBE3A, ZEB2, WWOX, NPR2L, STX1B, CNTN2, CACNB4, CACNA1H, CLCN2, ADRA2B, SNIP1, CPA6, IER3IP1, STRADA, SLC6A1, LNPK, ICK, TRAPPC6B, NACC1, PROSC, NPRL3, PRDM8, SLC12A5, LMNB2, SPATA5, RELN, GAL, CERS1, KCNC1, SRPX2, CRH, NPRL2 |
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Oftalmoplegia Externa Progressiva Crônica, Autossômica Dominante |
Painel por Sequenciamento de Próxima Geração |
DNA2, OPA1, POLG, RRM2B, SLC25A4, TK2 |
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Oftalmoplegia Externa Progressiva Crônica e Fenocópias |
Painel por Sequenciamento de Próxima Geração |
AGRN, ALG14, ALG2, C10ORF2, C12ORF65, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DGUOK, DNA2, DNM2, DOK7, DPAGT1, GFPT1, KIF21A, LRP4, MGME1, MTM1, MUSK, OPA1, POLG, POLG2, PREPL, RAPSN, RNASEH1, RRM2B, RYR1, SLC25A4, SPG7, TK2, TUBB3, TYMP |
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Oftalmoplegia Externa Progressiva Crônica, Autossômica Recessiva |
Painel por Sequenciamento de Próxima Geração |
C10ORF2, C12ORF65, CHRNE, DGUOK, DNM2, MGME1, POLG, RNASEH1, SPG7, TK2, TYMP |
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Neuropatia Sensorial e Autonômica |
Painel por Sequenciamento de Próxima Geração |
ATL1, ATL3, CCT5, DNMT1, DST, ELP1, FAM134B, GLA, IKBKAP, KIF1A, NAGLU, NGF, NTRK1, POLG, PRDM12, PRX, RAB7A, RETREG1, SCN10A, SCN11A, SCN9A, SEPT9, SPTLC1, SPTLC2, TECPR2, TRPA1, TTR, WNK1 |
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Miopatia Mitocondrial |
Painel por Sequenciamento de Próxima Geração |
ACADVL, ALAS2, C10ORF2, C12ORF65, CHCHD10, CHKB, CHRNE, COLQ, CPT2, DGUOK, DNA2, DNM2, DOK7, ETFA, ETFB, ETFDH, FDX2, ISCU, KIF21A, LAMP2, MGME1, MTM1, OPA1, POLG, POLG2, PUS1, RNASEH1, RRM2B, RYR1, SLC22A5, SLC25A4, SLC25A42, SPG7, TK2, TUBB3, TYMP |
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Mitocondriopatia Hepática |
Painel por Sequenciamento de Próxima Geração |
ABHD5, AGL, ATP7B, BCS1L, C10ORF2, CCDC115, CPT1A, DGUOK, GBE1, GFM1, LARS, MPV17, NBAS, PNPLA2, POLG, SCO1, SLC25A26, SUCLG1, TALDO1, TRMU, TSFM |
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Miopatias e Distrofias Musculares |
Painel por Sequenciamento de Próxima Geração |
ABHD5, ACADS, ACAD9, ACADM, ACADVL, AGL, ABCC9, ABCA4, AMACR, AMPD1, ANO5, ACTC1, ACTA1, ACTN2, ANKRD1, AV3, AKT2, AGPAT2, BSCL2, BAG3, BIN1, B3GALNT2, B4GAT1, BEST1, CACNA1A, CACNB2, CALR3, CAPN3, CAV3, CLCN1, COL6A1, COL6A2, COL6A3, COL12A1, CRYAB, CSRP3, CCDC78, CPT1A, CFL2, CNTN1, CNGA3, CNGB3, CPT2, C1QTNF5, CAV1, CDH3, DAG1, DES, DSP, DSG2, DOLK, DSC2, DMD, DMPK, DNM2, DNAJB6, DNAJC19, DYSF, EMD, EYA4, ETFA, ETFB, ETFDH, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, FDX2, FHL1, FHL2, FKRP, FKTN, FLNC, FSCN2, GAA, GLA, GATA4, GATAD1, GNAT2, GMPPB, GNE, GYS1, GPD1L, HCN4, HNRNPDL, HADH, HADHA, HADHB, ISPD, ILK, ISCU, JPH2, JUP, KCNE3, KBTBD13, KLHL40, KLHL41, LARGE, LAMA2, LAMA4, LAMP2, LDB3, LPIN1, LIMS2, LMNA, LMOD3, LMNB1, MAMLD1, MYOT, MURC, MYBPC3, MTM1, MTMR14, MYF6, MYH6, MYH7, MYL2, MYL3, MYLK2, MYPN, NEB, NEBL, NEXN, PFKM, PDLIM3, PDE6C, PLN, PLP1, PPARG, PLEC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POLR3A, POLR3B, PRKAG2, PKP2, PGAM2, PGM1, PGK1, PNPLA2, PHKA1, POLG, POLG2, PY |
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Leigh, Síndrome |
Painel por Sequenciamento de Próxima Geração |
AARS2, ACAD9, ADCK3, APTX, ATP5E, ATPAF2, BCS1L, C10ORF2, COQ2, COQ9, COX10, COX15, COX4I1, COX4I2, COX6B1, COX7A1, DARS2, DGUOK, DLAT, DLD, ETFDH, ETHE1, FASTKD2, FH, FOXRED1, GFER, GFM1, LARS2, LMBRD1, LRPPRC, MPV17, MRPS16, MTFMT, NDUFA1, NDUFA10, NDUFA11, NDUFA13, NDUFA2, NDUFA7, NDUFA8, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFB6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV3, NUBPL, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, RARS2, RRM2B, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SUCLA2, SUCLG1, SUCLG2, SURF1, TACO1, TK2, TMEM70, TOMM20, TRMU, TSFM, TTC19, TUFM, TUSC3, TYMP, UQCRB, UQCRQ, YARS2 |
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Hipotonia Muscular, Início Adulto |
Painel por Sequenciamento de Próxima Geração |
ABHD5, ACADM, ACADVL, ACTA1, ADSSL1, AGL, ANO5, BAG3, BICD2, BVES, CAPN3, CASQ1, CAV3, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DOK7, DYNC1H1, DYSF, EMD, ETFA, ETFB, ETFDH, FHL1, FKRP, FKTN, FLNC, GAA, GBE1, GFPT1, GMPPB, GNE, GYG1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HNRNPU, ISCU, ISPD, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LPIN1, MATR3, MTM1, MYH2, MYH7, MYO9A, MYOT, NEB, ORAI1, PLEC, PNPLA2, POLG, POMGNT1, POMT1, POMT2, PUS1, PYGM, RAPSN, RBCK1, RRM2B, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SLC22A5, SLC25A1, SLC5A7, SQSTM1, STIM1, SYT2, TCAP, TIA1, TK2, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TRPV4, TTN, VCP, VMA21 |
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Encefalopatias (Mitocondrial/Síndrome de Leigh) |
Painel por Sequenciamento de Próxima Geração |
AARS2, ACAD9, ADCK3, C10ORF2, COQ2, COQ6, COQ9, COX10, DGUOK, EARS2, ETHE1, FBXL4, MPV17, MTFMT, MTO1, NARS2, NDUFS2, NDUFS4, PDHA1, PDSS1, PDSS2, POLG, RMND1, RNASEH1, RRM2B, SCO1, SCO2, SLC19A3, SUCLA2, SUCLG1, SURF1, TK2, TMEM70, TRIT1, TRMU |
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Encefalopatia Epiléptica Infantil Precoce, Autossômica Recessiva |
Painel por Sequenciamento de Próxima Geração |
ACY1, ADSL, ALDH7A1, ARFGEF2, BCKDK, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, CTSF, EPM2A, FARS2, FOLR1, GAMT, GOSR2, KCNJ10, KCTD7, MFSD8, NHLRC1, NRXN1, PIGO, PLCB1, PNKP, PNPO, POLG, PPT1, ROGDI, SCARB2, SLC19A3, SLC25A22, ST3GAL3, ST3GAL5, SZT2, TBC1D24, TNK2, TPP1, WWOX |
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Atrofia Óptica, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
ACO2, AUH, C12ORF65, CISD2, MFN2, MTPAP, NDUFS1, NR2F1, OPA1, OPA3, POLG, SLC24A1, SPG7, TIMM8A, TMEM126A, WFS1 |
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Ataxia Mitocondrial Recessiva |
Sequenciamento Completo do Gene |
POLG |
