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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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Yunis Varon, Síndrome |
Sequenciamento Completo do Gene |
FIG4 |
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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 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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Esclerose Lateral Amiotrofica |
Painel por Sequenciamento de Próxima Geração |
C9ORF72, ALS2, ANG, ARHGEF28, ATXN2, CHCHD10, CHMP2B, CHRM1, DAO, DCTN1, DPP6, ELP3, ERBB4, EWSR1, FGGY, FIG4, FUS, GLE1, GRN, HFE, HNRNPA1, HNRNPA2B1, HNRNPD, ITPR2, MAPT, MATR3, NEFH, NEK1, OPTN, PARK7, PFN1, PON1, PON2, PON3, PRPH, SETX, SIGMAR1, SOD1, SPG11, SPG20, SQSTM1, SRCAP, SS18L1, TAF15, TARDBP, TBK1, TUBA4A, UBQLN2, UNC13A, VAPB, VCP, VEGFA, VPS54, TRPM7, ANXA11, KIF5A |
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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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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 |
