Scientific background:

Summary: Mutations of the BSND gene are responsible for autosomal recessive infantile Bartter syndrome with deafness.

Epidemiology: Although exact data are not available, mutation in this gene are thought to occur 1 in 50,000-100,000 newborn.

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: 

Birkenhäger R et al. (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Estévez R et al. (2001) Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.
Scholl U et al. (2006) Barttin modulates trafficking and function of ClC-K channels.