Broj gena
331
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
Panel za vaskulopatije uključuje gene povezane s limfedemom, Ehlers-Danlos sindromom, aortopatijama, cerebrovaskularnim poremećajima i plućnim arterijama.
Geni
ABCA1, ABCC6, ABCC8, ABCC9, ABCG5, ABCG8, ABL1, ACAD9, ACE, ACP5, ACTA2, ACVR1, ACVRL1, ADA2, ADAMTS13, ADAMTS2, ADAMTSL4, ADGRG1, AEBP1, AGXT, ALDH18A1, ALX3, ANTXR1, APOA1, APOB, APP, ARX, ASS1, ATP13A3, ATP6V0A2, ATP7A, ATR, B3GALT6, B4GALT1, B4GALT7, BGN, BMPR2, BRAF, C1R, CACNA1A, CAV1, CBL, CBS, CCBE1, CCDC88A, CCM2, CD59, CDC42, CELSR1, CEP152, CEP63, CHD4, CHD7, CHST14, CISD2, CNOT3, COG6, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COL9A3, COLGALT1, COQ2, COQ8A, CPAP, CPS1, CRB1, CSF1R, CST3, CTC1, CTSA, CYP11B1, CYP11B2, CYP26C1, DCHS1, DCX, DLD, DNA2, DOCK8, DPAGT1, DPM1, DPM3, DYRK1B, EFEMP2, EIF2AK4, ELN, EMILIN1, ENG, ENPP1, EPAS1, EPHB4, EPOR, ERCC6, ERCC8, ERG, ESCO2, F10, F13A1, F13B, F2, F5, F7, F8, F9, FASTKD2, FAT4, FBLN5, FBN1, FBN2, FERMT3, FGA, FGB, FGG, FKBP14, FLNA, FLT4, FLVCR2, FOXC1, FOXC2, FOXE3, FOXF1, GAA, GANAB, GATA2, GATA3, GCDH, GDF2, GFI1B, GGCX, GJA1, GJA5, GJC2, GLA, GLMN, GNAQ, GP1BA, GPHN, GPR143, GUCY1A1, GYS1, HBB, HGF, HNF1B, HNRNPK, HRAS, HSD11B2, HTRA1, IKBKG, IL1RN, IL6, IPO8, ISCU, ITM2B, IVD, JAG1, JAK2, JAM3, KANSL1, KCNA5, KCNJ2, KCNK3, KCNQ1, KDR, KIF11, KNG1, KRAS, KRIT1, LAMB1, LAMC3, LARGE1, LARS2, LDLR, LMAN1, LMBRD1, LMNA, LOX, LRPPRC, LTBP2, LTBP3, LZTR1, MAP2K1, MAP2K2, MCCC1, MED12, MEF2C, MEFV, MET, MFAP5, MFN2, MGAT2, MMACHC, MMUT, MOCS1, MOCS2, MPI, MTHFR, MYBPC3, MYH11, MYH7, MYLK, NBEAL2, NDE1, NF1, NLRP3, NOTCH1, NOTCH2, NOTCH3, NPPA, NRAS, NSD1, OCLN, OPHN1, OTC, PAFAH1B1, PARS2, PCCA, PCCB, PCNT, PCSK9, PDCD10, PDE3A, PDE4D, PGM1, PIEZO1, PIK3C2A, PIK3CA, PIK3R2, PKD1, PKD2, PLAU, PLG, PLIN1, PLOD1, PLOD3, PMM2, PNP, POMGNT1, POMT1, POMT2, PPP1CB, PRKAR1A, PRKG1, PROS1, PTEN, PTPN11, PTPN14, RAF1, RASA1, RASGRP2, RBBP8, RBM20, RELN, RIT1, RNF213, ROBO4, RORC, RRAS2, RTTN, RXYLT1, SAMHD1, SARS2, SCN1B, SCN2B, SCN5A, SCNN1B, SCNN1G, SERPINC1, SERPINE1, SETD5, SHANK3, SHOC2, SKI, SLC19A2, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD9, SMARCAL1, SOS1, SOS2, SOX17, SOX18, SPARC, SPRED1, SPRED2, STAMBP, STAT1, STAT2, STIM1, STING1, TBX4, TEK, TGFB2, TGFB3, TGFBR1, TGFBR2, THBD, THSD1, TNFRSF1A, TNXB, TPP2, TRAIP, TREX1, TSC1, TSC2, TTR, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, USP18, VEGFC, VHL, VLDLR, VWF, WDR62, WFS1, WNK4, WRN, YY1AP1, ZNF469, ZNHIT3