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Ataxias: painel de genes por NGS (painel alargado)

Especialidade(s) / Outra(s) Especialidade(s)

Neurologia

Metodologia

NGS, com CNVs

Código SNS

34900

OMIM

Nº de Genes

158

Lista de Genes / Mutações

ABCB7, ABHD12, ACO2, AFG3L2, AHI1, ALDH5A1, ANO10, APTX, ARL13B, ARL6, ATCAY, ATM, ATP1A3, ATP2B3, ATP8A2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEAN1, C5orf42, CA8, CACNA1A, CACNB4, CAMTA1, CAPN1, CASK, CC2D2A, CCDC88C, CEP290, CEP41, CLCN2, CLN5, CLPP, COASY, COQ8A, COX20, CP, CSTB, CWF19L1, CYP27A1, CYP2U1, DNAJC19, DNMT1, EBF3, EEF2, ELOVL4, ELOVL5, FA2H, FBXL4, FDXR, FGF14, FLVCR1, FMR1, FXN, GBA2, GFAP, GOSR2, GRID2, GRM1, GSS, HARS2, HIBCH, INPP5E, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1C, KIF7, LAMA1, LARS2, LMNB1, LRPPRC, MARS2, MKKS, MKS1, MME, MRE11, MTFMT, MTPAP, MTTP, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NOL3, NPHP1, NUBPL, OFD1, OPA1, OPHN1, PAX6, PDYN, PEX7, PHYH, PNKD, PNKP, PNPLA6, POLG, PPP2R2B, PRKCG, PRRT2, RNF216, RPGRIP1L, RUBCN, SACS, SERAC1, SETX, SIL1, SLC1A3, SLC20A2, SLC25A46, SLC2A1, SLC52A2, SLC9A6, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TCTN1, TCTN2, TCTN3, TDP1, TGM6, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TPP1, TRIM32, TTBK2, TTC19, TTC8, TTPA, TUBB4A, TWNK, UBA5, VAMP1, VLDLR, WDPCP, WDR81, WFS1, WWOX, ZFYVE26, ZNF423

TAT

2 a 3 meses

Tipo de Amostra

Sangue periférico em EDTA (3 a 6mL); estável 48h à temperatura ambiente (TA) ou 72h refrigerado
ou
ADN (>5μg com concentração >20ng/μL); estável 48h à TA ou >48h refrigerado

Para outros tipos de amostra, por favor contacte o laboratório.