Broj gena
181
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
Genome panel za atrofiju mozga uključuje gene povezane sa generalizovanom i fokalnom atrofijom mozga, obuhvatajući frontotemporalnu demenciju, Alzheimerovu bolest i spinocerebelarnu ataksiju. Panel uključuje skrining ekspanzije ponavljanja za gene: ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, C9orf72, CACNA1A, CSTB, FMR1, FXN, HTT, NOP56, PPP2R2B, PRNP, TBP.
Geni
AAAS, AARS1, ABCB7, ABHD12, AFG3L2, ALAS2, AMPD2, ANO10, AP1S2, APOE, APP, APTX, ARSA, ATCAY, ATM, ATN1, ATP1A3, ATP2B3, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, BIN1, C9orf72, CA8, CACNA1A, CACNA1G, CACNA2D2, CAMTA1, CASK, CCDC88C, CHCHD10, CHMP1A, CHMP2B, CLCN2, CLN6, CLP1, COG5, COQ8A, COX20, CP, CSTB, CTSF, CWF19L1, CYLD, CYP27A1, CYP2U1, DAGLA, DARS2, DDHD2, DMXL2, DNAJC19, DNAJC5, DNMT1, DYNC1H1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EPM2A, EXOSC3, FGF14, FLVCR1, FMR1, FOLR1, FUS, FXN, GBA2, GFAP, GJC2, GOSR2, GPAA1, GRID2, GRM1, GRN, HEXA, HEXB, HTT, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1C, MAPT, MARS2, MMACHC, MRE11, MT-ATP6, MTPAP, MTTP, MVK, NAGLU, NFASC, NHLRC1, NKX6-2, NOP56, NPC1, NPC2, NUS1, OPA3, OPHN1, OPTN, PAX2, PAX6, PCLO, PDYN, PEX16, PLA2G6, PLCG2, PMPCA, PNKP, PNPLA6, POLG, POLR3A, PPP2R2B, PRICKLE1, PRKCG, PRNP, PRRT2, PSEN1, PSEN2, RARS2, RELN, RNF170, RNF216, SACS, SAR1B, SCN8A, SEPSECS, SETX, SIL1, SLC1A3, SLC2A1, SLC9A6, SNX14, SORL1, SPG7, SPTBN2, SQSTM1, SRD5A3, STUB1, SYNE1, TARDBP, TBK1, TBP, TDP1, TGM6, TMEM106B, TMEM240, TPP1, TREM2, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTPA, TUBB4A, TWNK, UBQLN2, UCHL1, VAMP1, VCP, VLDLR, VPS13D, VPS53, VRK1, WDR73, WDR81, WFS1, WWOX, ZFYVE26