Hypertension

Small panel (#500): PAH – most common genes

ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, KCNK3, MMACHC, SMAD9
(9 genes, 16,9 kb)

Large panel (#501): PAH – all genes

ACVRL1, AQP1, ATP13A3, BMP10, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, G6PC3, GATA6, GDF2, KCNA5, KCNK3, KLF2, MMACHC, PRDX1, SMAD1, SMAD4, SMAD9, SOX17, TBX4, TMEM70
(23 genes, 37 kb)

Single gene diagnostics:

MMACHC

Small panel (#043)

CUL3, CYP17A1, HSD11B2, KCNJ5, KLHL3, NR3C2, PDE3A, SCNN1A, SCNN1B, SCNN1G, WNK4
(11 genes, 24 kb)

long-range PCR: CYP11B1-CYP11B2 fusion gene
(familial hyperaldosteronism type I)

Large Panel (#400) 

CACNA1D, CACNA1H, CLCN2, CUL3, CYB11B1, CYB11B2, CYP17A1, HSD11B2, KCNJ5, KLHL3, NR3C1, NR3C2, PDE3A, PPARG, RMND1, SCNN1A, SCNN1B, SCNN1G, SDHA, SDHAF2*, SDHB*, SDHC*, SDHD*, SSH1, TMEM127, WNK1, WNK4
(27 genes, 63,9 kb)

Single gene diagnostics:

CLCN2, CUL3, CYB11B1, CYB11B2, CYB17A1, HSD11B2, KCNJ5, KLHL3, NR3C2, PDE3A, SCNN1A, SCNN1B, SCNN1G, SDHA, SDHAF2*, SDHB*, SDHC*, SDHD*, TMEM127, WNK1, WNK4