Клинический экзом. Панель “Наследственные заболевания почек”

Секвенирование со средней кратностью покрытия от 70х без верификации по Сэнгеру. Исследуемые гены: ACE, ACTN4, ADAMTS13, AGT, AGTR1, AGXT, AHI1, ALG1, ALMS1, APOL1, AQP2, ARL13B, ARL6, ATP6V0A4, ATP6V1B1, AVP, AVPR2, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BMP4, BSND, C1QA, C1QB, C1QC, C3, C5orf42, CA2, CASR, CC2D2A, CCDC28B, CD151, CD2AP, CD46, CEP290, CEP41, CFB, CFH, CFHR1, CFHR3, CFHR5, CFI, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, COL4A3, COL4A4, COL4A5, COQ2, COQ6, CUBN, CUL3, DCDC2, DMP1, ENPP1, EYA1, FAH, FGF20, FGF23, FOXC1, FRAS1, FREM1, FREM2, FXYD2, GATA2, GATA3, GDNF, GLIS2, GRHPR, GRIP1, HNF1B, HOGA1, HSD11B2, INF2, INVS, IQCB1, ITGA3, ITGB4, KCNJ1, KCNJ10, KIF7, KL, KLHL3, LAMB2, LMX1B, LZTFL1, MKKS, MKS1, MUC1, MYH9, MYO1E, NEK8, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR3C2, OCRL, OFD1, PAX2, PDSS2, PHEX, PIGA, PKD1, PKD2, PKHD1, PLCE1, PMM2, PTPRO, REN, RET, ROBO2, RPGRIP1L, SCARB2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SIX1, SIX5, SLC12A1, SLC12A3, SLC34A1, SLC34A3, SLC4A1, SLC4A4, SMARCAL1, SOX17, TCTN1, TCTN2, TFAP2A, THBD, TMEM138, TMEM216, TMEM237, TMEM67, TRIM32, TRPC6, TTC21B, TTC8, UMOD, VDR, WDPCP, WDR19, WNK1, WNK4, WT1, XPNPEP3, ZMPSTE24