Клинический экзом. Панель “Наследственные заболевания сердца”

Секвенирование со средней кратностью покрытия от 70х без верификации по Сэнгеру. Исследуемые гены: ABCC9, ABCG5, ABCG8, ACTA1, ACTA2, ACTC1, ACTN2, ACVR1, ACVR2B, AKAP9, AKT3, ALMS1, ANK2, ANO5, APOA5, APOB, APOC2, APOE, ATP2A2, BAG3, BIN1, BMPR2, BRAF, CACNA1C, CACNA1D, CACNB2, CALM1, CALR3, CASQ2, CAV3, CBL, CBS, CETP, CFC1, CFL2, CHD7, CITED2, CNTN1, COL3A1, COL5A1, COL5A2, COX15, CRELD1, CRYAB, CSRP3, CTNNA3, DES, DMD, DNAJC19, DNM2, DOLK, DPP6, DSC2, DSG2, DSP, DTNA, DYSF, EFEMP2, ELN, EMD, EYA4, FBN1, FBN2, FHL1, FKRP, FKTN, FLNA, FLNC, FOXC1, FXN, GAA, GATA4, GATA6, GATAD1, GCKR, GDF1, GJA1, GJA5, GLA, GNAI2, GNE, GPD1L, GPIHBP1, HADHA, HCN4, HFE, HRAS, HSPB8, ISCU, JAG1, JPH2, JUP, KBTBD13, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LEFTY2, LMF1, LMNA, LPL, LTBP2, MAMLD1, MAP2K1, MAP2K2, MATR3, MED13L, MEGF10, MSTN, MTM1, MYBPC1, MYBPC3, MYF6, MYH11, MYH2, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYO6, MYOT, MYOZ2, MYPN, NEB, NEXN, NF1, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, NPPA, NRAS, PABPN1, PCSK9, PIK3CA, PIK3R2, PITX2, PKP2, PLEC, PLN, PRKAG2, PRKAR1A, PSEN1, PSEN2, PTPN11, RAF1, RASA1, RBM10, RBM20, RYR1, RYR2, SALL4, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SEMA3E, SEPN1, SGCB, SGCD, SGCG, SHOC2, SLC25A4, SLC2A10, SMAD3, SMAD4, SMAD6, SNTA1, SOS1, SPRED1, TAB2, TAZ, TBX1, TBX20, TBX3, TBX5, TCAP, TFAP2B, TGFB2, TGFB3, TGFBR1, TGFBR2, TLL1, TMEM43, TMPO, TNNC1, TNNI3, TNNT1, TNNT2, TPM1, TPM2, TPM3, TRDN, TRPM4, TTN, TTR, VCL, VCP, ZFPM2, ZIC3