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