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 |
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 |
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 |