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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, FOXC2, FOXL1, GAA, GJA1, GLA, HAND1, HCN4, IRX4, 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, TBX5, TGFB2, TGFBR1, TGFBR2, MAT2A, SMAD6 |
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Miocardiopatia Restritiva |
Painel por Sequenciamento de Próxima Geração |
ACTC1, BAG3, DES, MYH7, MYPN, TNNI3, TNNT2 |
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Miocardiopatia Dilatada |
Painel por Sequenciamento de Próxima Geração |
ABCC9, ACTC, ACTN2, CSRP3, CTF1, DES, EMD, LDB3, LMNA, MYBPC3, MYH7, PLN, SGCD, TAZ, TCAP, TNNT2, TNNI3, TPM1, VCL |
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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 |
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Miopatia Miofibrilar |
Painel por Sequenciamento de Próxima Geração |
ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, LMNA, MYOT |
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Miopatia Vacuolar Autofágica |
Painel por Sequenciamento de Próxima Geração |
DES, LAMP2, VMA21 |
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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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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 |
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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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Acinesia Fetal / Artrogripose Multipla Congênita |
Painel por Sequenciamento de Próxima Geração |
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTB, ACTG1, ADCY6, ADGRG6, ADSL, AGL, AGRN, AIMP1, ALG14, ALG2, ANO5, ASCC1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, CAPN3, CAV3, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CNTN1, CNTNAP1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRYAB, CTDP1, CUL4B, DES, DMD, DNAJB6, DNM2, DOK7, DPAGT1, DPM2, DYNC1H1, DYNC2H1, DYSF, ECEL1, EGR2, EMD, ERBB3, ERCC6, ETFA, ETFB, ETFDH, EXOSC3, FAM20C, FBN2, FGFR2, FHL1, FKBP10, FKBP14, FKRP, FKTN, FLNB, FLNC, FOXP3, GAA, GARS, GBA, GBE1, GDAP1, GFPT1, GLE1, GMPPB, GNE, HADH |
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Neuropatia, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
AAAS, AARS, ABCA1, ABHD12, ACTA1, ADAR, AGRN, AIFM1, ALG14, ALG2, ALS2, AMACR, ANG, ANO5, ARHGEF10, ASAH1, ASCC1, ATL1, ATL3, ATM, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BSCL2, C12ORF65, CAPN3, CASQ1, CCDC78, CCT5, CFL2, CHAT, CHCHD10, CHKB, CHMP2B, CHRNA1, CHRNB1, CHRND, CHRNE, CLP1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COX10, COX6A1, CTDP1, CYP27A1, DAG1, DCAF8, DCTN1, DES, DGAT2, DHTKD1, DMD, DNAJB2, DNAJB5, DNM2, DNMT1, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DST, DYNC1H1, DYSF, EGR2, EMD, EPG5, EXOSC3, EXOSC8, FAM126A, FAM134B, FBLN5, FBXO38, FGD4, FHL1, FIG4, FKBP14, FKRP, FKTN, FUS, FXN, GAA, GALC, GAN, GARS, GBA, GBE1, GDAP1, GFPT1, GJB1, GLA, GMPPB, GNB4, GSN, GYG1, HADHA, HADHB, HARS, HEXA, HINT1, HK1, HMBS, HNRNPA1, HNRNPA2B1, HNRNPDL, HSPB1, HSPB3, HSPB8, IFRD1, IGHMBP2, IKBKAP, INF2, ISPD, ITGA7, KARS, KBTBD13, KIF1A, KIF5A, KLHL13, KLHL40, KY, LAMA2, LAMB2, LAMP2, LARGE1, LAS1L, LIMS2, LITAF, LMNA, LMOD3, LRP4, LRSAM1, MARS, MATR3, MED25, MEGF10, MFN2, MICAL1, MICU1, MORC2 |
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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 |
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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 |
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Distrofia Muscular, Autossômica Dominante |
Painel por Sequenciamento de Próxima Geração |
CAV3, DES, DNAJB6, HNRNPDL, LMNA, MYOT, SMCHD1, TNPO3, TTN, VCP |
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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 |
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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 |
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Distrofia Muscular de Cinturas, Painel Reduzido |
Painel por Sequenciamento de Próxima Geração |
CAV3, DES, DNAJB6, LMNA, MYOT, SMCHD1, TNPO3 |
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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 |
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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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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 |
