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Doenças Cardíacas |
Painel por Sequenciamento de Próxima Geração + Análise de Deleção/Duplicação |
ACTA2, ACTC1, APOB, COL3A1, DSC2, DSG2, DSP, FBN1, GLA, KCNH2, KCNQ1, LDLR, LMNA, MYBPC3, MYH7, MYH11, MYL2, MYL3, PCSK9, PKP2, PRKAG2, RYR2, SCN5A, SMAD3, TGFBR1, TGFBR2, TMEM43, TNNI3, TNNT2, TPM1 |
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Charcot-Marie-Tooth, Autossômica Dominante |
Painel por Sequenciamento de Próxima Geração |
AARS, AIFM1, ARHGEF10, ATL1, ATP7A, BSCL2, COX6A1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HINT1, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, NTRK1, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SH3TC2, SLC12A6, SLC25A46, SPG11, SPTLC1, SPTLC2, TFG, TRIM2, TRPV4, VCP, WNK1, YARS |
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Amiotrofia Distal |
Painel por Sequenciamento de Próxima Geração + Análise de Deleção/Duplicação |
AR, AARS, ABHD12, AIFM1, ARHGEF10, ASAH1, ASCC1, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CHCHD10, CLP1, CNTNAP1, COA7, DCTN1, DCTN2, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, EXOSC3, EXOSC8, FBXO38, FGD4, FIG4, GAA, GAN, GARS, GDAP1, GJB1, GJB1 (CX32), GNB4, HARS, HEXA, HINT1, HMBS, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MEGF10, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, NAGLU, NDRG1, NEFH, NEFL, PDK3, PLEKHG5, PMP2, PMP22, PRPS1, PRX, PTRH2, RAB7, RAB7A, REEP1, SBF1, SBF2, SCO2, SETX, SGPL1, SH3TC2, SIGMAR1, SLC52A2, SLC52A3, SLC5A7, SMN, SMN1, SMN2, SPG11, SPTLC1, SYT2, TFG, TRIM2, TRIP4, TRPV4, UBA1, VAPB, VCP, WARS, YARS |
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Doenças Craniofaciais e Displasias Esqueléticas |
Painel por Sequenciamento de Próxima Geração |
ACP5, ADAMTS18, ADAMTSL2, ALPL, ALX1, ALX3, ALX4, ANO5, BMP1, CANT1, CHST14, CHST3, COL10A1, COL11A1, COL11A2, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CRTAP, CTSK, DDR2, DLL3, DYM, DYNC2H1, EDN1, EFNB1, EIF2AK3, EIF4A3, ELN, ERF, EVC, EVC2, EXT1, FBLN5, FBN1, FGF8, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, GALNS, GDF5, GDF6, GJA1, GLB1, GLI2, GLI3, GNAI3, GNAS, GRHL3, HES7, HUWE1, IFITM5, IFT80, IL11RA, IRF6, KIF22, LEMD3, LEPRE1, LFNG, LIFR, LMNA, LRP5, MATN3, MESP2, MMP13, MMP9, MSX1, MSX2, NF2, NKX3-2, NOG, NPR2, OFD1, PAPSS2, PLCB4, PLOD1, PLOD2, PLS3, POLR1C, POLR1D, POR, PPIB, PRKAR1A, PTCH1, PTH1R, PVRL1, RAB23, RECQL4, RMRP, ROR2, RUNX2, SALL1, SATB2, SBDS, SERPINF1, SERPINH1, SH3BP2, SHH, SHOX, SIX3, SLC26A2, SMARCAL1, SOST, SOX9, SP7, SPARC, TBX1, TBX22, TBX6, TCF12, TCOF1, TFAP2A, TGFBR1, TGFBR2, TGIF1, TMEM38B, TNFRSF11A, TP63, TRAPPC2, TRIP11, TRPS1, TRPV4, TSHZ1, TWIST1, WNT1, WNT3, ZIC1, ZIC2 |
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Neuropatia Motora |
Análise de Deleção/Duplicação |
SBF2, RAB7A, REEP1, MTMR2, SH3TC2, GJB1, GDAP1, KIF1B, HSPB1, IGHMBP2, EGR2, PRX, PMP22, NEFL, LMNA, HSPB8, GARS, MFN2, MPZ |
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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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Síndromes Clinicamente Reconheciveis |
Painel por Sequenciamento de Próxima Geração |
ALMS1, ANKRD11, ARHGAP31, ARID1B, ARL6, ATR, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BLM, BRAF, CBL, CDC6, CDT1, CENPJ, CEP152, CEP290, CEP63, CREBBP, DHCR7, DOCK6, EDN3, EDNRB, ELP4, EP300, ERCC8, EYA1, EZH2, FBN2, FGD1, FOXL2, GATA3, GCM2, GLE1, GNAS, GPC3, GPR143, HDAC8, HRAS, IRF6, JAG1, KDM6A, KIF1BP, KMT2A, KMT2D, KRAS, LMNA, LMX1B, LZTFL1, MAP2K1, MAP2K2, MID1, MITF, MKKS, MKS1, MYBPC1, MYH3, MYH8, NF1, NFIX, NIPBL, NOTCH1, NOTCH2, NRAS, NRXN1, NSD1, OCA2, OFD1, ORC1, ORC4, ORC6, PAX3, PAX6, PHF6, PIEZO2, POLR1C, POLR1D, PTH, PTPN11, RAD21, RAF1, RASA1, RBBP8, RECQL4, ROR2, RPS6KA3, SALL1, SDCCAG8, SHOC2, SIX5, SKI, SLC45A2, SMAD3, SMC1A, SMC3, SNAI2, SOS1, SOX10, SPECC1L, SPRED1, SRCAP, STX16, TBCE, TBX5, TCF4, TCOF1, TFAP2A, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM67, TNNI2, TNNT3, TP63, TRIM32, TTC8, TYR, TYRP1, VIPAS39, VPS13B, VPS33B, WDPCP, WNT5A, WRN, ZEB2 |
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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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Miopatia Congenita por Desproporção do tipo de Fibra |
Painel por Sequenciamento de Próxima Geração |
ACTA1, LMNA, MYH7, RYR1, SEPN1, TPM2, TPM3 |
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Progeria, Síndrome |
Painel por Sequenciamento de Próxima Geração |
LMNA, ZMPSTE24 |
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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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Displasia Esquelética |
Painel por Sequenciamento de Próxima Geração |
ACAN, ACP5, AGPS, ALPL, ANKH, ANO5, ARHGAP31, ARSE, ATP6V0A2, B3GALT6, B4GALT7, BMP2, BMPR1B, CA2, CANT1, CASR, CC2D2A, CDH3, CDKN1C, CEP290, CHST14, CHST3, CHSY1, CLCN5, CLCN7, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, CTSK, CUL7, DDR2, DHCR24, DLL3, DLX3, DMP1, DYM, DYNC2H1, EBP, EIF2AK3, ENPP1, ESCO2, EVC, EVC2, EXT1, EXT2, FAM20C, FBLN1, FBN1, FBXW4, FERMT3, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, FMN1, GALNT3, GDF5, GLI3, GNAS, GORAB, GPC6, GREM1, HDAC4, HES7, HOXD13, HPGD, HSPG2, ICK, IFITM5, IFT122, IFT140, IFT80, IHH, KIF22, KIF7, LEMD3, LFNG, LIFR, LMBR1, LMNA, LRP4, LRP5, MAFB, MATN3, MESP2, MGP, MKS1, MMP13, MMP2, MMP9, MYCN, NEK1, NIPBL, NKX3-2, NOG, NOTCH2, NPR2, OBSL1, OSTM1, P3H1, PAPSS2, PCNT, PHEX, PIGV, PITX1, PLOD2, PPIB, PRKAR1A, PTH1R, PTHLH, PTPN11, PYCR1, RASGRP2, RECQL4, ROR2, RPGRIP1L, RUNX2, SALL1, SALL4, SERPINF1, SERPINH1, SH3PXD2B, SHH, SHOX, SLC26A2, SLC34A3, SLC35D1, SLC39A13, SMARCAL1, SOST, SOX9, SP7, SULF1, TBCE, TB |
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Neuropatia Periférica |
Painel por Sequenciamento de Próxima Geração |
AARS, ABCD1, ARHGEF10, ARSA, ATL1, ATM, ATP7A, BICD2, BSCL2, CCT5, CTDP1, CYP27A1, CYP7B1, DCTN1, DCAF8, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GALC, GAN, GARS1, GBE1, GDAP1, GJB1, GJB3, GLA, GNB4, HARS, HINT1, HINT2, HK1, HMBS, HSN2, HSPB1, HSPB3, HSPB8, HSPD1, IGHMBP2, IKBKAP, INF2, KARS, KIAA0196, KIF1A, KIF1B, KIF5A, L1CAM, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NIPA1, NTRK1, PDK3, PHYH, PLEKHG5, PLP1, PMP22, PRPS1, PRX, RAB7A, REEP1, RTN2, SBF2, SCN9A, SETX, SH3TC2, SLC12A6, SLC16A2, SLC5A7, SOD1, SPAST, SPG11, SPG20, SPG21, SPG7, SPTLC1, SPTLC2, SPTLC3, TFG, TRIM2, TRPV4, TTR, TUBB3, TYMP, WNK1, XPC, YARS, ZFYVE26, ZFYVE27, ABHD12, AIFM1, ATP1A1, BAG3, CNTNAP1, COA7, DCTN2, DGAT2, DRP2, MARS, MCM3AP, MME, MORC2, MPV17, NAGLU, NEFH, PMP2, PTRH2, RAB7, SBF1, SCO2, SGPL1, SIGMAR1, VCP, WARS |
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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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Neuropatia, Atrofia Muscular Motor/Proximal/Espinhal |
Painel por Sequenciamento de Próxima Geração |
ASAH1, ASCC1, BICD2, CHCHD10, CLP1, DYNC1H1, EXOSC3, EXOSC8, GAA, HEXA, HMBS, IGHMBP2, LAS1L, LMNA, MFN2, PLEKHG5, SETX, SLC52A2, SLC52A3, SMN1, TFG, TRIP4, TRPV4, UBA1, VAPB |
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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 Congênita |
Painel por Sequenciamento de Próxima Geração |
B3GALNT2, B4GAT1, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1, DNM2, FHL1, FKBP14, FKRP, FKTN, GMPPB, ISPD, ITGA7, LAMA2, LARGE1, LMNA, PIEZO2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SEPN1, TCAP, TMEM5, TNXB |
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Miocardiopatia Dilatada, Distrofia Muscular Emery-Dreifuss e de Cinturas tipo 1b, Charcot-Marie-Tooth 2, Lipodistrofia Familiar Parcial Dunnigan, Werner Atipica, Displasia Mandibuloacral, Progeria |
Sequenciamento Completo do Gene |
LMNA |
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Distrofia Muscular de Cinturas tipo 1b |
Sequenciamento Completo do Gene + Análise de Deleção/Duplicação |
LMNA |
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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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Lipodistrofia Congenita |
Painel por Sequenciamento de Próxima Geração |
AGPAT2, AKT2, BSCL2, CAV1, CIDEC, FBN1, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1, PLIN1, PPARG, PSMB8, PTRF, TBC1D4, ZMPSTE24 |
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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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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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Dunnigan, Síndrome |
Painel por Sequenciamento de Próxima Geração |
AKT2, LMNA, PPARG |
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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 de Emery Dreifuss |
Sequenciamento Completo do Gene |
LMNA |
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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 Dominante |
Painel por Sequenciamento de Próxima Geração |
CAV3, DES, DNAJB6, HNRNPDL, LMNA, MYOT, SMCHD1, TNPO3, TTN, VCP |
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Distrofia Muscular de Emery-Dreifuss |
Painel por Sequenciamento de Próxima Geração |
EMD, LMNA |
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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 |
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Doença Muscular com Contraturas e/ou Espinha Rígida |
Painel por Sequenciamento de Próxima Geração |
ACTA1, CAPN3, CFL2, COL6A1, COL6A2, COL6A3, DNM2, EMD, FHL1, GAA, KBTBD13, KLHL40, LAMA2, LMNA, NEB, PIEZO2, RAPSN, RYR1, SEPN1, SYNE1, SYNE2, TMEM43, TNNT1, TOR1AIP1, TPM2, TPM3 |
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Charcot-Marie-Tooth |
Painel por Sequenciamento de Próxima Geração |
AARS, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BSCL2, CNTNAP1, COA7, DCTN1, DCTN2, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MED25, MARS, MCM3AP, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, NAGLU, NDRG1, NEFH, NEFL, PDK3, PLEKHG5, PMP2, PMP22, PRPS1, PRX, PTRH2, RAB7, RAB7A, SBF1, SBF2, SCO2, SETX, SGPL1, SH3TC2, SIGMAR1, SPG11, SPTLC1, TRIM2, TRPV4, VCP, WARS, YARS |
