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MYOT

Exames relacionados Estratégia de Análise Gene relacionado
Doenças Neuromusculares Painel por Sequenciamento de Próxima Geração AARS, ABCD1, AFG3L2, ANO5, APTX, ASPA, ATL1, ATM, ATP7A, CACNA1S, CAPN3, CAV3, CLCN1, CP, CYP7B1, DAG1, DES, DMD, DNAJB6, DNM2, DYSF, EGR2, EMD, FGD4, FHL1, FIG4, FKRP, FKTN, FLNC, FUS, FXN, GARS, GDAP1, GJB1, GJB3, HSPB1, HSPB8, KIF5A, L1CAM, LAMP2, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MSTN, MTM1, MTMR2, MYOT, NDRG1, NEFL, NIPA1, NOTCH3, PABPN1, PMP22, POMGNT1, POMT1, POMT2, PRPS1, PRX, PYGM, RAB7A, REEP1, SBF2, SCN4A, SCO2, SETX, SGCA, SGCB, SGCD, SGCG, SOD1, SPAST, SPG11, SPG7, TARDBP, TCAP, TRIM32, TRPV4, VAPB
Miopatia Miofibrilar Painel por Sequenciamento de Próxima Geração ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, LMNA, MYOT
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
Miopatia de Corpos Esferoides Sequenciamento Completo do Gene MYOT
Distrofia Muscular de Cinturas, Painel Expandido Painel por Sequenciamento de Próxima Geração ANO5, CAPN3, CAV3, DES, DNAJB6, DYSF, FKRP, GMPPB, ISPD, LIMS2, LMNA, MYOT, PNPLA2, SGCA, SGCB, SGCD, SGCG, SMCHD1, TCAP, TNPO3, TORAI1P1, TRAPPC11, TRIM32, TTN
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
Distrofia Muscular, Painel Expandido Painel por Sequenciamento de Próxima Geração ANO5, B3GALNT2, B4GAT1, CAPN3, CAV3, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DNAJB6, DPM1, DPM2, DPM3, DYSF, EMDFHL1, FKRP, FKTN, GAA, GMPPB, HNRNPDL, ISPD, ITGA7, LAMA2, LARGE, LIMS2, LMNA, MYOT, PLEC, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, SUN1, SUN2, SYNE1, SYNE2, TCAP, TMEM5, TNPO3, TRAPPC11, TRIM32, TTN, TMEM43, TOR1AIP1
Miopatia Distal Painel por Sequenciamento de Próxima Geração ADSSL1, AGL, AGRN, ANO5, BAG3, BICD2, CAPN3, CAV3, CCDC78, CHRNA1, CHRNB1, CHRND, CHRNE, CRYAB, DES, DNAJB6, DYSF, FHL1, FLNC, GNE, HNRNPA1, HNRNPA2B1, LDB3, LMNA, MATR3, MYH14, MYH7, MYOT, PLEC, PNPLA2, SLC5A7, SQSTM1, TCAP, TIA1, TTN, VCP
Miotonia Congenita Painel por Sequenciamento de Próxima Geração + Análise de Mutação + Análise de Expansão ACTA1, ANO5, ATP2A1, B3GALNT2, B3GNT1, BAG3, BICD2, BIN1, CACNA1S, CAPN3, CAV3, CFL2, CHKB, CLCN1, CNTN1, COL6A1, COL6A2, COL6A3, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, GNE, IGHMBP2, ISPD, ITGA7, KBTBD13, KLHL40, LAMA2, LAMP2, LARGE, LDB3, LMNA, MEGF10, MTM1, MYH7, MYOT, NEB, PHKA1, PLEC, PLEKHG5, POMGNT1, POMT1, POMT2, PYGM, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIL1, SYNE1, TCAP, TMEM5, TNNI2, TNNT1, TNPO3, TPM2, TPM3, TRIM32, TRPV4, TTN, UBA1, VRK1
Distrofia Muscular, Autossômica Dominante Painel por Sequenciamento de Próxima Geração CAV3, DES, DNAJB6, HNRNPDL, LMNA, MYOT, SMCHD1, TNPO3, TTN, VCP
Distrofia Muscular de Cinturas, Painel Reduzido Painel por Sequenciamento de Próxima Geração CAV3, DES, DNAJB6, LMNA, MYOT, SMCHD1, TNPO3
Cardiomiopatia no Contexto da Doença Neuromuscular Painel por Sequenciamento de Próxima Geração ACTA1, AGL, BAG3, CAV3, CHKB, CRYAB, DES, DMD, EMD, ETFA, ETFB, ETFDH, FHL1, FKRP, FKTN, FLNC, GAA, GBE1, GNE, LAMP2, LARGE1, LDB3, LMNA, MTO1, MYH7, MYOT, PLEC, PNPLA2, POMGNT1, POMT1, POMT2, SCO2, SEPN1, SGCA, SGCB, SGCD, SGCG, SLC22A5, SLC25A3, SYNE1, SYNE2, TAZ, TCAP, TMEM43, TTN, VCP
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