PAINEL DE ATAXIAS HEREDITÁRIAS

Sobre o exame

As ataxias hereditárias são doenças que afetam a coordenação dos movimentos e o equilíbrio. O painel investiga, em um único exame, genes associados a esses quadros.

Indicado mediante avaliação clínica neurológica.

Detalhes do exame

• Prazo do resultado: 15 dias úteis.
• Amostra: swab bucal ou sangue.

Genes analisados (336)

AAAS, ABCA2, ABCB7, ABCD1, ABHD12, ACBD5, ACBD6, ACO2, ADGRG1, ADPRHL2, ADPRS, AFG3L2, AHI1, ALDH5A1, AMPD2, ANO10, AP1S2, APOB, APTX, ARL13B, ARL6, ARMC9, ARSA, ATCAY, ATG4D, ATG5, ATG7, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B2, ATP2B3, ATP6V0A1, ATP7B, ATP8A2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHA, BEAN1, BRAT1, C5orf42, CA8, CACNA1, CACNA1A, CACNA1G, CACNA2D2, CACNB4, CAD, CAMTA1, CAPN1, CASK, CBY1, CC2D2A, CCDC88C, CCLN2, CEP290, CEP41, CHMP1A, CHP1, CLCN2, CLN5, CLN6, CLPP, COA7, COQ2, COQ4, COQ5, COQ8A, COX20, CP, CSF1R, CSTB, CTBP1, CWF19L1, CYP27A1, CYP2U1, DAB1, DAGLA, DARS2, DDC, DDHD2, DHDDS, DHX30, DNAJC19, DNAJC3, DNAJC5, DNMT1, DOCK3, EBF3, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL1, ELOVL4, ELOVL5, EP300, EPM2A, ERCC4, EXOSC3, EXOSC5, FA2H, FAT2, FBXL4, FDXR, FGF14, FLVCR1, FOLR1, FRMD4A, FRMD5, FXN, GARRE1, GBA2, GDAP2, GEMIN5, GFAP, GJC2, GLS, GOSR2, GPAA1, GRID2, GRM1, GSS, HARS, HARS2, HEXA, HEXB, HSD17B4, IFPRD1, INPP5E, IRF2BPL, ITM2B, ITPR1, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KCNN2, KCNQ2, KIF1A, KIF1C, KIF26B, KIF7, KMT2B, LAGE3, LAMA1, LARS2, LETM1, LMNB1, MAG, MAPK8IP3, MARS2, MKKS, MKS1, MMACHC, MME, MORC2, MRE11, MSTO1, MTCL1, MTFMT, MTPAP, MTTP, MVK, NARS1, NHLRC1, NKX2-1, NKX6-2, NOL3, NOVA2, NPC1, NPC2, NPHP1, NPTX1, NUBPL, NUP107, NUP133, NUS1, OFD1, OPA1, OPA3, OPHN1, OSGEP, PAX6, PCDH12, PCNA, PCYT2, PDSS1, PDSS2, PDYN, PEX16, PEX7, PHYH, PIGS, PIK3R5, PITRM1, PLA2G6, PMPCA, PMPCB, PNKD, PNKP, PNPLA6, PNPLA8, PNPT1, POLG, POLR3A, POLR3B, POU4F1, PRDX3, PRICKLE1, PRKCG, PRNP, PRPS1, PRRT2, PTF1A, PTRH2, PUM1, RAB1A, RAB3A, RARS2, RFC1, RFC4, RFXANK, RNF170, RNF216, RNF220, RNU12, RORA, RPGRIP1L, RTN4IP1, RUBCN, SACS, SAMD9L, SAR1B, SARS1, SCN1A, SCN2A, SCN8A, SCYL1, SDHA, SEPSECS, SETX, SIL1, SLC13A3, SLC17A5, SLC1A3, SLC25A46, SLC2A1, SLC44A1, SLC52A2, SLC9A1, SLC9A6, SNAP25, SNX14, SPG7, SPR, SPTBN2, SQSTM1, SRD5A3, STUB1, SUFU, SVBP, SYNE1, SYNGAP1, SYT14, TBC1D23, TBCE, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TGM6, THG1L, TINF2, TMEM106B, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TP53RK, TPP1, TPR, TPRKB, TRIM32, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTC8, TTI1, TTPA, TUBA1A, TUBA4A, TUBB2A, TUBB4A, TWNK, TXN2, UBA5, UBR4, UBTF, UCHL1, VAMP1, VLDLR, VPS13D, VPS41, VRK1, VWA3B, WARS2, WDPCP, WDR4, WDR73, WDR81, WFS1, WWOX, XPNPEP3, XRCC1, ZBTB47, ZFHX3, ZFYVE26, ZNF423, ZNF592

A indicação e a interpretação dos exames genéticos devem ser feitas com orientação médica e, de preferência, aconselhamento genético.

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