Ataxia-NGS

Ataxias hereditárias - sequenciamento - 309 genes

Painel ampliado contendo 309 genes associados a ataxias hereditárias : ataxia de início na infância, ataxia de início tardio, anomalias cerebelares, ataxia episódica

Este teste não é indicado para a investigação de expansão de nucleotídeos como é o caso, por exemplo, de expansões de repetições CAG associadas a diferentes formas de ataxias espinocerebelares (SCAs)

AAAS, ABCB7, ABHD12, ADCY5, ADGRG1, ADPRHL2, AFG3L2, AHI1, ALG1, ALG11, ALG12, ALG3, ALG6, ALG8, ALG9, AMPD2, ANO10, AP1S2, APTX, ARL13B, ARMC9, ARSA, ATCAY, ATG7, ATM, ATN1, ATP1A2, ATP1A3, ATP6AP1, ATP6V0A2, ATP7B, ATP8A2, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT1, B4GALT7, B4GAT1, B9D2, BRF1, C2CD3, C5orf42, CA8, CACNA1A, CACNA1G, CACNA2D2, CACNB4, CAMTA1, CAPN1, CASK, CC2D2A, CCDC115, CENPF, CEP104, CEP290, CEP41, CHMP1A, CHST14, CHST3, CHST6, CHSY1, CLCN2, CLN6, CLP1, COA7, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COQ8A, COX20, CP, CRB2, CSPP1, CSTB, CTBP1, CWF19L1, CYP27A1, CYP2U1, DARS2, DDHD2, DDX59, DHCR7, DKC1, DNAJC19, DNAJC5, DNMT1, DOLK, DPAGT1, DPM1, DPM3, EBF3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EPM2A, EVC, EVC2, EXOSC3, EXOSC8, EXOSC9, EXT1, EXT2, FAT2, FGF14, FKRP, FKTN, FLVCR1, FMR1, FOLR1, FUT8, FXN, GALNT3, GBA2, GDAP2, GFAP, GFPT1, GJC2, GLI3, GLRA1, GLRB, GMPPB, GNE, GOSR2, GPAA1, GRID2, GRM1, HEXA, HEXB, HYLS1, ICK, INPP5E, IRF2BPL, ISPD, ITPR1, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KCNQ2, KIAA0586, KIAA0753, KIF1C, KIF7, LARGE1, MAN1B1, MAPK8IP3, MARS2, MFN2, MGAT2, MKS1, MMACHC, MOGS, MORC2, MPDU1, MPI, MRE11, MSTO1, MTTP, NGLY1, NHLRC1, NKX2-1, NKX6-2, NPC1, NPC2, NPHP1, NPHP3, OFD1, OPA1, OPA3, OPHN1, PACS2, PAX6, PDYN, PEX16, PEX6, PGAP2, PGAP3, PGM1, PGM3, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PITRM1, PLA2G6, PMM2, PMPCA, PMPCB, PNKD, PNKP, PNPLA6, POLG, POLR3A, POMGNT1, POMGNT2, POMT1, POMT2, PRICKLE1, PRKCG, PRNP, PRRT2, PTF1A, PTRH2, PUM1, RARS2, RELN, RFT1, RNF170, RNF216, ROBO3, RORA, RPGRIP1L, RUBCN, SACS, SAMD9L, SAR1B, SCLT1, SCN1A, SCN2A, SCN8A, SCYL1, SEC23B, SEPSECS, SETX, SIL1, SLC1A3, SLC25A46, SLC2A1, SLC35A1, SLC35C1, SLC35D1, SLC39A8, SLC52A2, SLC9A1, SLC9A6, SNX14, SPG7, SPR, SPTBN2, SQSTM1, SRD5A3, SSR4, ST3GAL5, STUB1, SYNE1, SYNGAP1, TBC1D23, TCTN1, TCTN2, TCTN3, TERT, TGM6, THG1L, TINF2, TMEM106B, TMEM107, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM240, TMEM5, TMEM67, TOE1, TPP1, TSEN15, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTPA, TUBA1A, TUBB2B, TUBB3, TUBB4A, TUSC3, TWNK, TXNDC15, UBA5, UCHL1, VLDLR, VPS13B, VPS13D, VPS41, VPS53, VRK1, WDR73, WDR81, WFS1, WWOX, XRCC1, XYLT1, XYLT2, ZFYVE26, ZSWIM6

40503801

40 a 60 dias úteis

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