Broj gena
272
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
Panel uključuje gene povezane sa moždanim udarom (npr. CADASIL, CARASIL), poremećaje povezane sa povećanim rizikom od moždanog udara (npr. Fabryjeva bolest, koagulopatije), vaskularne malformacije i vaskulopatije (npr. Moyamoya bolest, Ehlers–Danlosov sindrom). Napominjemo da se u ovom panelu varijante u genu CACNA1A ispituju samo kao sekvencijske varijante. Ako postoji klinička sumnja na poremećaj ekspanzije ponavljanja povezan s CACNA1A, preporučuje se Genome verzija ovog panela.
Geni
ABCA1, ABCC6, ABCC9, ABCG5, ABCG8, ACAD9, ACE, ACP5, ACTA2, ACVRL1, ADA2, ADAMTS13, ADAMTS2, ADGRG1, AEBP1, AGXT, ANTXR1, APOA1, APOB, APP, ARX, ASS1, ATP7A, ATR, B3GALT6, B4GALT1, BRAF, C1R, CACNA1A, CBL, CBS, CCM2, CD59, CEP152, CEP63, CHD4, CISD2, CNOT3, COG6, COL1A1, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COLGALT1, COQ2, COQ8A, CPAP, CPS1, CRB1, CSF1R, CST3, CTC1, CTSA, CYP11B1, CYP11B2, CYP26C1, DCX, DLD, DNA2, DOCK8, DPAGT1, DPM1, DPM3, DYRK1B, EFEMP2, ELN, ENG, ENPP1, EPAS1, EPHB4, EPOR, ERCC6, ERCC8, ESCO2, F10, F13A1, F13B, F2, F5, F7, F8, F9, FASTKD2, FBLN5, FBN1, FERMT3, FGA, FGB, FGG, FLNA, FLT4, FLVCR2, FOXC1, FOXE3, FOXF1, GAA, GANAB, GATA3, GCDH, GDF2, GFI1B, GGCX, GJA1, GJA5, GLA, GLMN, GNAQ, GP1BA, GPHN, GPR143, GUCY1A1, GYS1, HBB, HNF1B, HRAS, HSD11B2, HTRA1, IL1RN, IL6, ISCU, ITM2B, IVD, JAG1, JAK2, JAM3, KANSL1, KCNA5, KCNJ2, KCNQ1, KDR, KNG1, KRAS, KRIT1, LAMB1, LAMC3, LARGE1, LARS2, LDLR, LMAN1, LMBRD1, LMNA, LOX, LRPPRC, LTBP3, LZTR1, MAP2K1, MCCC1, MEF2C, MEFV, MFAP5, MFN2, MGAT2, MMACHC, MMUT, MOCS1, MOCS2, MPI, MTHFR, MYBPC3, MYH11, MYH7, MYLK, NBEAL2, NDE1, NF1, NLRP3, NOTCH1, NOTCH2, NOTCH3, NPPA, NRAS, OCLN, OPHN1, OTC, PAFAH1B1, PARS2, PCCA, PCCB, PCNT, PCSK9, PDCD10, PDE3A, PDE4D, PGM1, PIK3C2A, PIK3CA, PIK3R2, PKD1, PKD2, PLAU, PLG, PLIN1, PLOD1, PLOD3, PMM2, PNP, POMGNT1, POMT1, POMT2, PRKAR1A, PRKG1, PROS1, PTEN, PTPN11, RAF1, RASA1, RASGRP2, RBBP8, RBM20, RELN, RNF213, ROBO4, RRAS2, RTTN, RXYLT1, SAMHD1, SCN1B, SCN2B, SCN5A, SCNN1B, SCNN1G, SERPINC1, SERPINE1, SETD5, SHOC2, SLC19A2, SLC2A10, SMAD3, SMAD4, SMAD9, SMARCAL1, SOS1, SOS2, SPARC, SPRED2, STAMBP, STAT1, STAT2, STIM1, STING1, TEK, TGFB2, TGFB3, TGFBR1, TGFBR2, THBD, THSD1, TNFRSF1A, TNXB, TPP2, TRAIP, TREX1, TSC1, TSC2, TTR, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, USP18, VHL, VLDLR, VWF, WDR62, WFS1, WNK4, WRN, YY1AP1