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SACS

Exames relacionados Estratégia de Análise Gene relacionado
Ataxia Espinocerebelar Painel por Sequenciamento de Próxima Geração AAAS, ABCB7, ABHD5, ABHD12, ACADVL, ACO2, ADCK3, AFG3L2, AMPD2, ANO10, AP1S2, APOB, APTX, ARSA, ATCAY, ATM, ATN1, ATP1A3, ATP8A2, ATP2B3, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN10, BEAN1, C10ORF2, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CASK, CCDC88C, CHMP1A, CLCN2, CLN5, CLN6, COQ2, COX20, CP, CWF19L1, CYP27A1, CYP2U1, DARS2, DDHD2, DNAJC5, DNMT1, DRD3, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EPM2A, EXOSC3, FGF14, FLVCR1, FMR1, FOLR1, FUS, FXN, GBA2, GFAP, GJC2, GOS, GOSR2, GRID2, GRM1, HEXA, HEXB, IFRD1, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1C, LAMA1, MARS2, MMACHC, MRE11A, MTPAP, MTTP, NHLRC1, NPC1, NPC2, NOP56, OPHN1, PAX6, PDSS1, PDSS2, PDYN, PEX7, PEX16, PHYH, PLA2G6, PMPCA, PNKP, PNPLA6, POLG, POLR3A, PPP2R2B, PRKCG, PRNP, PRRT2, PTF1A, RARS2, RUBCN, RNF170, RNF216, SACS, SAR1B, SCN2A, SEPSECS, SETX, SIL1, SLC1A3, SLC2A1, SLC9A6, SNX14, SPG7, SPTBN2, SRD5A3, STUB1, SYNE1, SYT14, TBP, TDP1, TGM6, TENM4, TMEM240, TPP1, TSEN2, TSEN54, TTBK2, TTC19, TTPA, TUBB4A, TXN2, VAMP1, VLDLR
Charlevoix-Saguenay, Síndrome Sequenciamento Completo do Gene SACS
Neuropatia, Início Na Infância Painel por Sequenciamento de Próxima Geração COX6A1, DYNC1H1, GAN, GARS, GDAP1, IGHMBP2, KLHL13, MFN2, MTMR2, NEFL, PEX12, PLP1, PMP22, PRX, SACS, SBF2, SEPT9, SLC12A6, SLC52A2, SLC52A3, TRIM2, TRPV4
Doença do Neurônio Motor, Avaliação Abrangente Painel por Sequenciamento de Próxima Geração ALS2, AP5Z1, BSCL2, CYP7B1, FA2H, HSPD1, KIAA0196, KIF1A, KIF5A, L1CAM, NIPA1, PLP1, PNPLA6, REEP1, RTN2, SACS, SLC33A1, SPAST, SPG11, SPG20, SPG21, SPG3A, SPG7, ZFYVE26
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