Scientific background:

Summary: Mutations of this renal urate transporter cause hypouricemia by hyperuricuria, which results in urate kidney stones.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		15 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.
	research test	Method		Gene dosage measurements
		Turn-around time		25 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	Of the gene rearrangements, this method is useful to detect large deletions or duplications.

Literature: 

Mount DB et al. (2006) Renal urate transport.
Capasso G et al. (2005) Uric acid and the kidney: urate transport, stone disease and progressive renal failure.