Broj gena
273
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). Ovaj panel uključuje i skrining ekspanzije ponavljanja gena CACNA1A.
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, SNORD118, 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