Scientific background:

Summary: Two alpha units, the protein product of SCNN1A, and one beta and gamma unit form the heteromultimeric sodium channel. Mutations of SCNN1A are responsible for autosomal recessive Pseudohypoaldosternism 1.

Gene: SCNN1A is localized to chromosome 12 (12p13). SCNN1A consists of 13 exons and spreads over 29kb. Translation starts at exon 2.

Pathology: SCNN1A mutations leading to the disruption of the protein product also alter the function of aldosterone-sensitive sodium channel. Pseudohypoaldosteronism is the disease that results.

Methodology:

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

Luft FC et al. (2003) Mendelian forms of human hypertension and mechanisms of disease.