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NEFL

Exames relacionados Estratégia de Análise Gene relacionado
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
Charcot Marie Tooth, Doença, Painel Completo Painel por Sequenciamento de Próxima Geração AARS, AIFM1, BSCL2, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HSPB1, HSPB8, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PMP22, PRPS1, PRX, RAB7A, SBF2, SH3TC2, TRPV4, YARS
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
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, GARS, 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
Neuropatia, Início Na Infância Painel por Sequenciamento de Próxima Geração COX6A1, DYNC1H1, GAN, GARS, GDAP1, IGHMBP2, KLHL13, MFN2, MTMR2, NEFL, PEX12, PLP1, PMP22, PRX, SACS, SBF2, SEPT9, SLC12A6, SLC52A2, SLC52A3, TRIM2, TRPV4
Charcot-Marie-Tooth, Doença, Autossômica Dominante Painel por Sequenciamento de Próxima Geração DNM2, EGR2, GARS, HSPB1, HSPB8, LITAF, MFN2, MPZ, NEFL, PMP22, RAB7, TRPV4, YARS
Charcot-Marie-Tooth, Doença Axonal Painel por Sequenciamento de Próxima Geração DNM2, GARS, GDAP1, GJB1, HSPB1, HSPB8, LMNA, MFN2, MPZ, NEFL, RAB7A, TRPV4, YARS
Charcot-Marie-Tooth, Doença Painel por Sequenciamento de Próxima Geração MFN2, KIF1B, RAB7A, LMNA, MED25, TRPV4, GARS, NEFL, HSPB1, HSP27, GDAP1, MPZ, HSPB8, DNM2, AARS, DYNC1H1, LRSAM1, DHTKD1, TRIM2, IGHMBP2, DNAJB2, MARS, NAGLU, HARS, MME, YARS
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