Broj gena
122
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
Panel za strukturne bolesti srca uključuje gene povezane s kongenitalnim strukturnim srčanim manama (izoliranim i sindromskim), kao i gene povezane s heterotaksijom i drugim abnormalnostima lijevo-desne osi.
Geni
ABL1, ACVR2B, ADAMTS10, ADAMTS19, ALDH1A2, ANKS6, ARHGAP31, ARL2BP, B3GAT3, BCOR, BRAF, CBL, CCDC39, CCDC40, CDH2, CFAP298, CFAP300, CFAP53, CFC1, CHD7, CIROZ, CITED2, COL1A2, COL3A1, CREBBP, CRELD1, CTNND1, DAW1, DLL4, DNAAF1, DNAAF11, DNAAF19, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAL1, DRC4, EHMT1, ELN, EOGT, EP300, EVC, EVC2, FBN1, FBN2, FLT4, FOXC1, FOXJ1, FOXP1, GATA4, GATA6, GDF1, GPC3, HAND1, HAND2, HCCS, HRAS, ISL1, JAG1, KANSL1, KDM6A, KMT2D, KRAS, LRRC56, MAP2K1, MAP2K2, MED12, MED13L, MEGF8, MEIS2, MGP, MMP21, MRAS, MYH6, NEK10, NIPBL, NKX2-5, NODAL, NOTCH1, NOTCH2, NR2F2, NRAS, ODAD1, ODAD2, ODAD3, ODAD4, PKD1L1, PTPN11, RAF1, RARB, RBM10, RIT1, RPSA, SALL1, SHOC2, SKI, SLC2A10, SMAD3, SMAD6, SMC3, SOS1, SOS2, SOX2, SPAG1, SPRED1, SPRED2, STRA6, TAB2, TBX1, TBX20, TBX3, TBX5, TFAP2B, TRAF7, ZIC3