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TTN

Exames relacionados Estratégia de Análise Gene relacionado
Cardiopatias Painel por Sequenciamento de Próxima Geração + Análise de Deleção/Duplicação ABCC9, ACTC1, ACTN2, AGL, BAG3, CACNA1C, CAV3, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, GAA, GLA, HCN4, JUP, LAMP2, LMNA, MYBPC3, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2, RAF1, RBM20, RYR2, SCN5A, SGCD, SLC22A5, TAZ, TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, ANKRD1, CALR3, CHRM2, CTF1, CTNNA3, DTNA, FHL2, GATA4, GATA6, GATAD1, ILK, JPH2, LAMA4, LDB3, LRRC10, MED12, MYH6, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NKX25, NPPA, PDLIM3, PLEKHM2, PRDM16, TGFB3, TMPO, TXNRD2, A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RASA1, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1, ACADVL, ALMS1, CPT2, DNAJC19, ELAC2, MTO1, SDHA, TMEM70, ACTA2, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2, MAT2A, SMAD6
Miopatia, Painel Expandido Painel por Sequenciamento de Próxima Geração ACTA1, ANO5, ATP2A1, BAG3, BIN1, CACNA1S, CAV3, CCDC78, CFL2, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, CPT2, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FKBP14, FLNC, GNE, KBTBD13, KCNJ2, KLHL40, KLHL41, LDB3, LMNA, LMOD3, MATR3, MEGF10, MTM1, MYF6, MYH7, MYL2, MYOT, NEB, RYR1, SCN4A, SEPN1, SQSTM1, STAC3, STIM1, TIA1, TNNT1, TPM2, TPM3, TTN, VCP
Miopatia Congênita Painel por Sequenciamento de Próxima Geração ACTA1, BIN1, CCDC78, CFL2, CNTN1, COL6A1, COL6A2, COL6A3, DNM2, FKBP14, KBTBD13, KLHL40, KLHL41, LMOD3, MEGF10, MTM1, MYF6, MYH7, NEBRYR1, OL12A1, SEPN1, STAC3, TNNT1, TPM2, TPM3, TTN
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
Miopatia com Corpúsculo de Inclusão Painel por Sequenciamento de Próxima Geração GNE, HNRNPA2B1, MYH2, TTN, VCP
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
Distrofia Muscular, Autossômica Recessiva Painel por Sequenciamento de Próxima Geração ANO5, CAPN3, DES, DYSF, FKRP, GMPPB, ISPD, LIMS2, PNPLA2, SGCA, SGCB, SGCD, SGCG, TCAP, TOR1AIP1, TRAPPC11, TRIM32, TTN
Distrofia Muscular, Autossômica Dominante Painel por Sequenciamento de Próxima Geração CAV3, DES, DNAJB6, HNRNPDL, LMNA, MYOT, SMCHD1, TNPO3, 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
Displasia Arritmogenica do Ventriculo Direito Painel por Sequenciamento de Próxima Geração ACTN2, DES, DSC2, DSG2, DSP, EMD, FLNC, JUP, LMNA, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN5A, TMEM43, TNNI3, TNNT2, TTN
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
Cardiomiopatia Hipertrófica Familiar Painel por Sequenciamento de Próxima Geração ABCC9, ACTC1, ACTN2, ALMS1, ANK2, BAG3, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, ELAC2, EMD, EYA4, FHL1, FKRP, FKTN, GLA, GPD1L, HCN4, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LAMP2, LMNA, MTO1, MYBPC3, MYH7, MYL2, MYL3, NKX25, PKP2, PLN, PRKAG2, RAF1, RBM20, RYR2, SCN5A, SDHA, SGCD, TAZ, TCAP, TGFB3, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, AKAP9, ANKRD1, CACNA2D1, CALR3, CTF1, CTNNA3, DTNA, FHL2, GATA4, GATA6, GATAD1, ILK, JPH2, KCND3, KCNE3, KCNE5, KCNJ5, KCNJ8, LAMA4, LDB3, MYH6, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NPPA, PDLIM3, PRDM16, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SLMAP, SNTA1, TMPO, TRPM4, TXNRD2, A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RASA1, RIT1, SHOC2, SOS1, SPRED1
Miopatia Central Painel por Sequenciamento de Próxima Geração MEGF10, MYH7, RYR1, SELENON, TTN
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