Broj gena
181
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
Panel za atrofiju mozga uključuje gene povezane sa generalizovanom i fokalnom atrofijom mozga, obuhvatajući frontotemporalnu demenciju, Alzheimerovu bolest i spinocerebelarnu ataksiju. Varijante u genima ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, C9orf72, CACNA1A, CSTB, FMR1, FXN, HTT, NOP56, PPP2R2B, PRNP i TBP ispituju se samo kao sekvencijske varijante. Ako postoji klinička sumnja na poremećaj povezan sa ekspanzijom ponavljanja u jednom ili više navedenih gena, preporučuje se Genome verzija ovog panela.
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