Exames Genéticos > NeuroA-NGS Voltar
 
 
Código
NeuroA-NGS
Doença(s)
Doenças motoras e sensitivas do sistema nervoso periférico: sequenciamento - 320 genes
Gene / Região
AAAS, AARS, ABCB7, ABCD1, ABHD12, ADAR, ADCY5, ADGRG1 (GPR56), AFG3L2, AIFM1, AIMP1, ALDH18A1, ALS2, AMPD2, ANO10, ANO3, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, APTX, AR, ARG1, ARHGEF10, ARSA, ASAH1, ATCAY, ATL1, ATL3, ATM, ATP13A2, ATP1A3, ATP7A, ATP7B, B3GALNT2, B4GALNT1, BCAP31, BCS1L, BICD2, BSCL2, C12orf65, C19orf12, CA8, CACNA1A, CACNA1G, CAMTA1, CAPN1, CASK, CHCHD10, CHMP1A, CHMP2B, CLCN2, CLN6, CLP1, COASY, COQ8A (ADCK3), COX10, COX15, COX20, COX6A1, CP, CSTB, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DARS2, DBH, DCAF17, DDC, DDHD1, DDHD2, DHFR, DKC1, DLAT, DNAJC19, DNAJC5, DNM2, DNMT1, DYNC1H1, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELP1 (IKBKAP), EPM2A, ERLIN1, ERLIN2, ETHE1, EXOSC3, FA2H, FARS2, FBLN5, FBXO7, FGD4, FGF14, FIG4, FKRP, FKTN, FLVCR1, FMR1, FOLR1, FOXP2, FTL, FXN, GAN, GARS, GBA2, GCDH, GCH1, GDAP1, GFAP, GJB1, GJC2, GLA, GMPPB, GNAO1, GOSR2, GRID2, GRM1, HACE1, HARS, HEXA, HEXB, HIBCH, HINT1, HK1, HPCA, HSPB1, HSPB8, HSPD1, HTRA2, IFIH1, IGHMBP2, INF2, ISG15, ISPD, ITPR1, IVD, JPH3, KCNA1, KCNC3, KCND3, KCNJ10, KIF1A, KIF1C, KIF5A, L1CAM, LARGE1 (LARGE), LITAF, LMNA, LRSAM1, MAOA, MARS2, MFN2, MMACHC, MME, MPV17, MPZ, MRE11 (MRE11A), MTMR2, MTTP, MUT, NDRG1, NDUFA1, NDUFA10, NDUFAF2, NDUFAF6, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEFL, NGF, NHLRC1, NIPA1, NPC1, NPC2, NTRK1, OCLN, OPA3, OPHN1, PANK2, PAX6, PCCA, PCCB, PDE10A, PDGFB, PDGFRB, PDHA1, PDP1, PDYN, PEX16, PEX7, PHYH, PINK1, PLA2G6, PLEKHG5, PLP1, PMP22, PMPCA, PNKD, PNKP, PNPLA6, POLG, POLR3A, POMGNT1, POMGNT2 (GTDC2), POMT1, POMT2, PPP2R2B, PRKCG, PRKN (PARK2), PRKRA, PRNP, PRPS1, PRRT2, PRX, PTF1A, PTS, QDPR, RAB39B, RAB7A, RARS2, REEP1, RELN, RETREG1 (FAM134B), RNF170, RNF216, ROBO3, RTN2, SACS, SAR1B, SBF2, SCN11A, SCN9A, SDHA, SEPSECS, SEPT9, SERAC1, SETX, SGCE, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC16A2, SLC19A3, SLC1A3, SLC20A2, SLC25A19, SLC25A46, SLC2A1, SLC30A10, SLC52A2, SLC52A3, SLC6A3, SLC9A6, SMN1, SNX14, SPART (SPG20), SPAST, SPG11, SPG21, SPG7, SPR, SPTBN2, SPTLC1, SPTLC2, SRD5A3, STUB1, SUCLA2, SUCLG1, SURF1, SYNE1, SYNJ1, TBP, TFG, TGM6, TH, THAP1, TINF2, TMEM240, TMEM5, TOR1A, TPP1, TRPV4, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTPA, TTR, TUBA1A, TUBB2B, TUBB3, TUBB4A, TWNK (C10orf2), TYMP, UBA1, VCP, VLDLR, VPS13A, VRK1, WASHC5 (KIAA0196), WDR45, WDR45B, WDR73, WDR81, WFS1, WNK1, WWOX, YARS, YY1 e ZFYVE26
TUSS
40503801
Prazo de entrega
60 a 90 dias
Preço
R$ 2.790,00

Como solicitar o exame?


  • Entre em contato conosco por e-mail.
  • O médico e o paciente devem preencher os seguintes formulários:
    • Instrução para coleta - individual - 2017 - Fazer download
    • Formulário para Diagnóstico Molecular - Fazer download
    • Termo de consentimento geral - Fazer download
  • Envie as amostras pelos Correios ou entre em contato para realizar a coleta em nosso laboratório.

Informações sobre o exame:


O painel compreende 320 genes previamente associados a doença de Charcot-Marie-Tooth, neuropatias periféricas, neuropatias motoras pediátricas, hipoplasia cerebelar, distonia de início precoce, ataxia hereditária, paraplegia espástica hereditária, doenças de neurotrasmissores (inclui distonia sensível à dopamina), doenças estruturais do gânglio basal, entre outras.

Entre em contato para solicitar o exame:


  • E-mail: especialista_cegh@ib.usp.br
    (em horário comercial)