Panel genetic ataxie cerebeloasă & afecțiuni asociate (NGS) - 108 gene

Gene cuprinse în panel

ABCB7, ABHD12, ABHD5, ACADVL, ACO2, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP2B3, ATP8A2, CA8, CACNA1A, CACNA1G, CACNB4, CASK, CCDC88C, CLCN2, CLN5, COQ2, COQ8A, COQ9, CP, CWF19L1, CYP27A1, DNMT1, EEF2, ELOVL4, ELOVL5, FAT2, FGF12, FGF14, FLVCR1, FXN, GBA2, GOSR2, GRM1, ITM2B, ITPR1, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KIF1C, LAMA1, MARS2, MME, MTPAP, OPA1, OPHN1, PAX6, PDSS1, PDSS2, PDYN, PEX7, PHYH, PIK3R5, PLD3, PMPCA, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PRKCG, PRPS1, PTF1A, RNF216, RUBCN, SACS, SCN2A, SCN8A, SETX, SIL1, SLC1A3, SLC25A46, SLC2A1, SLC52A2, SLC9A1, SLC9A6, SNX14, SPG7, SPTBN2, SQSTM1, SYNE1, SYT14, TDP1, TGM6, TMEM240, TPP1, TRPC3, TSFM, TTBK2, TTPA, TUBB4A, TWNK, TXN2, UBA5, VAMP1, VLDLR, VWA3B, WDR73, WFS1, WWOX, XRCC1