Scientific background:

Summary: This gene encodes aldosteron synthase, an essential enzyme in aldosteron production. Loss of function mutations result in congenital hypoaldosteronism, gain of function mutations lead to hypertension and suppressed renin.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 working days
		Effort		little
		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: 

Okamoto M et al. (2005) Molecular identity and gene expression of aldosterone synthase cytochrome P450.