Despre analiză - Panel genetic ataxie cerebeloasă & afecțiuni asociate (NGS) - 137 gene
Gene cuprinse în panel
AAAS ABCB7, ABHD12, ABHD5, ACO2, ADGRG1, AFG3L2, ALG6, ANO10, AP1S2, APTX, ATCAY, ATM, ATP1A3, ATP2B3, ATP8A2, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CASK, CCDC88C, CHMP1A, CLCN2, CLN5, COQ2, COQ8A, COQ9, COX20, CP, CWF19L1, CYP27A1, DNAJC5, DNMT1, EEF2, ELOVL4, ELOVL5, FAT2, FGF12, FGF14, FLVCR1, FMR1, FXN, GBA2, GFAP, GOSR2, GRID2, GRM1, ITPR1, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KIF1C, LAMA1, MARS2, MME, MRE11, MTPAP, NKX6-2, OPA1, OPHN1, PAX6, PDSS1, PDSS2, PDYN, PEX16, PEX7, PHYH, PIK3R5, PLD3, PMPCA, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PRKCG, PRNP, PRPS1, PRRT2, PTF1A, PUM1, RNF170, RNF216, ROBO3, RUBCN, SACS, SAR1B, SCN2A, SCN8A, SCYL1, SEPSECS, SETX, SIL1, SLC1A3, SLC25A46, SLC2A1, SLC52A2, SLC9A1, SLC9A6, SNX14, SPG7, SPTBN2, SQSTM1, SRD5A3, STUB1, SYNE1, SYT14, TDP1, TDP2, TGM6, TINF2, TMEM240, TPP1, TRPC3, TSFM, TTBK2, TTPA, TUBA1A, TUBB2B, TUBB3, TUBB4A, TWNK, UBA5, VAMP1, VLDLR, VPS13D, VPS53, VWA3B, WDR73, WDR81, WFS1, WWOX, XRCC1