Nephrology
Whole exome sequencing (WES) with in silico gene panel analysis.
Clinical Report (Download a sample report here)
~3-6 weeks*
For detailed information about the sample requirements, please consult our clinical sample requirements page.
Pseudohypoaldosteronism (PHA) is a rare disorder where the body does not respond to the hormone aldosterone, leading to electrolyte imbalances like high potassium and low sodium, which impact the blood pressure. It is divided into two main types inherited in both autosomal dominant and autosomal recessive manners: Type I, which is caused by variants in genes that encode sodium channels subunits (SCNN1A, SCNN1G or SCNN1B) or aldosterone receptor (NR3C2) and Type II, which is caused by variants in the CUL3, KLHL3, WNK1 and WNK4 genes.
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