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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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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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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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Neuropatia Sensorial e Autonômica |
Painel por Sequenciamento de Próxima Geração |
ATL1, ATL3, CCT5, DNMT1, DST, ELP1, FAM134B, GLA, IKBKAP, KIF1A, NAGLU, NGF, NTRK1, POLG, PRDM12, PRX, RAB7A, RETREG1, SCN10A, SCN11A, SCN9A, SEPT9, SPTLC1, SPTLC2, TECPR2, TRPA1, TTR, WNK1 |
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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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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 |
