Neuropatia-NGS

Neuropatias hereditárias - sequenciamento - 165 genes

Painel ampliado contendo 165 genes associados a neuropatias hereditárias: doença de Charcot-Marie-Tooth, neuropatias periféricas, neuronopatias motoras , atrofia espinhal

Este teste inclui investigação de deleção e duplicação envolvendo o gene PMP22 (Análise CNV a partir de dados de NGS). Este teste não é indicado para a investigação do gene SMN1 (deleção ou mutaão de ponto)

AARS1, ABCA1, ABHD12, AGTPBP1, AIFM1, APTX, ARSA, ASAH1, ATL1, ATL3, ATM, ATP1A1, ATP7A, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, C12orf65, CD59, CHCHD10, CNTNAP1, COA7, COX6A1, CPOX, CTDP1, CYP27A1, DARS2, DCTN1, DEGS1, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, ELP1, ERCC6, ERCC8, EXOSC3, FAH, FAM126A, FBLN5, FGD4, FIG4, FLVCR1, FXN, GALC, GAN, GARS1, GBA2, GBF1, GDAP1, GJB1, GJC2, GLA, GNB4, HADHA, HADHB, HARS1, HINT1, HK1, HMBS, HSPB1, HSPB8, IARS2, IGHMBP2, INF2, JPH1, KARS1, KCNA2, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, LYST, MARS1, MCM3AP, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MTMR2, MTTP, NAGA, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, OPA1, OPA3, PDHA1, PDK3, PEX10, PEX7, PHYH, PLEKHG5, PMM2, PMP2, PMP22, PNKP, POLG, POLR3A, PPOX, PRDM12, PRNP, PRPS1, PRX, PTPN11, RAB7A, REEP1, RETREG1, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SEPT9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SORD, SOX10, SPAST, SPG11, SPTBN4, SPTLC1, SPTLC2, SURF1, SYT2, TFG, TRIM2, TRIP4, TRPA1, TRPV4, TTPA, TTR, TUBB3, TYMP, UBA1, VCP, VPS13A, VRK1, VWA1, WARS1, WNK1, XK, XPA, YARS1, ZFYVE26

40503801

40 a 60 dias úteis

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