Hypertension

*= For these genes, an MLPA analysis may be carried out as an additional diagnostic step.

Pulmonary arterial hypertension (PAH)

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

Hereditary hypertension

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

Contact

Assistant Prof. Dr. Bodo Beck
Telephone +49 221 478-86824
Email bodo.beck@uk-koeln.de

Dr. Florian Erger
Telephone +49 221 478-86828
Email florian.erger@uk-koeln.de

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Hypertension
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