Broj gena
243
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
Demencija panel Genome uključuje gene povezane sa familijarnim oblicima Alzheimerove bolesti, degeneracijom frontalnog i temporalnog režnja i vaskularnom demencijom, neuro-mišićnim bolestima i poremećajima pokreta povezanim sa kognitivnim deficitima (npr. ALS-dementni kompleks, naslijeđeni oblici Parkinsonove bolesti i hiperkinetički poremećaji). Uključeno je i testiranje ekspanzije ponavljanja gena ATXN1, ATXN2, C9orf72 i PRNP.
Geni
ABCA1, ABCC6, ABCD4, ACE, ACOX2, ADAM10, AKAP9, ALG1, ALPL, ALS2, AMH, ANG, ANGPTL3, ANK3, ANXA11, APOB, APOE, APP, ARHGAP31, ARPC1B, ARSA, ASCC1, ASRGL1, ASXL3, ATL1, ATP7B, ATXN1, ATXN2, BCKDK, BICD2, BIN1, BLOC1S3, BRCA2, BRD4, BSCL2, C5, C9orf72, CASP10, CCNF, CD2AP, CELF2, CELSR1, CEP290, CHCHD10, CHMP2B, CHRNA3, CHRNA4, CIC, CLCN1, CLIC5, COG4, COQ4, CP, CPA1, CRBN, CSF1R, CTSC, CUBN, CYLD, CYP27A1, DAAM2, DAO, DCTN1, DEF6, DNM1, DSG2, DTYMK, DYSF, ENO3, ERBB4, ERLIN2, EWSR1, EXOSC5, FBP1, FIG4, FN1, FOXG1, FOXRED1, FTL, FUS, GABBR2, GANAB, GCDH, GLE1, GLIS3, GPAA1, GRN, HELLS, HEXA, HFE, HID1, HMOX1, HNRNPA1, HNRNPA2B1, HSPD1, IFT140, ITGA8, ITM2B, JAG2, JPH2, KANSL1, KIF5A, KMT2E, KMT5B, KRT86, LAMC3, LRRK2, LTBP4, MAGI2, MAPK8IP3, MAPT, MATR3, MCM8, MEF2C, MMP20, MMP21, MSH3, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTHFD1, MTO1, MYH9, MYRF, MYT1L, NANS, NEFH, NEK1, NOTCH3, NPC1, OBSCN, OGDH, OPTN, PACS2, PANK2, PAX2, PCSK9, PEX5, PFN1, PGAP3, PHGDH, PHIP, PIGU, PIP5K1C, PLAU, PLCG2, POLR3B, PRKAR1B, PRNP, PSEN1, PSEN2, PSMC3, PSTPIP1, QRICH2, QRSL1, RARS1, RBFOX2, REEP1, REL, RUSC2, SCAPER, SCN4A, SDCCAG8, SERAC1, SETD1B, SETX, SIGMAR1, SLC24A1, SLC24A4, SLC52A3, SMAD3, SNCA, SNCB, SOD1, SORL1, SPAST, SPATA7, SPEN, SPG11, SPTB, SQSTM1, SS18L1, STAB1, STARD7, STT3A, TARDBP, TBK1, TCOF1, TET3, TFG, TIA1, TMEM106B, TP53, TREM2, TRMT1, TSPOAP1, TTN, TUBA4A, TULP1, TYROBP, UBE3A, UBQLN2, VAPB, VCP, VKORC1, VPS13C, WASHC5, WDR11, WDR73