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MPZ

Exames relacionados Estratégia de Análise Gene relacionado
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
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
Dejerine-Sottas, Síndrome Painel por Sequenciamento de Próxima Geração EGR2, GJB1, MPZ, PMP22, PRX
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
Charcot-Marie-Tooth, Doença Sequenciamento de Éxons Específicos MPZ
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
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