Broj gena
243
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
Panel za demenciju 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). Napominjemo da se u ovom panelu varijante u genima ATXN1, ATXN2, C9orf72 i PRNP ispituju samo kao sekvencijske varijante. Ako postoji klinička sumnja na poremećaj ekspanzije ponavljanja povezan sa ATXN1, ATXN2, C9orf72 ili PRNP, preporučuje se Genome verzija ovog panela.
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