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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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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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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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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 |
