Despre analiză - 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