Scientific background:

Summary: A protein kinase being involved in signal transduction is coded by this gene, whose mutations cause pseudohypoaldosteronism 2.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		20 working days
		Effort		large
		Specimen		DNA
		Quality assessment		Internal quality control only
	All known and new missense, nonsense and splice mutations can be detected.
	clinical test	Method		Carrier testing
		Turn-around time		5 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	The test is only specific about the mutation already known in this kindred.

Literature: 

Hadchouel J et al. (2006) Familial hyperkalemic hypertension.
Cope G et al. (2005) WNK kinases and the control of blood pressure.
Subramanya AR et al. (2006) WNK kinases regulate sodium chloride and potassium transport by the aldosterone-sensitive distal nephron.