Scientific background:

Summary: The transporter manages tubular glucose reabsorption. If this function is impaired the renal glucose threshold is decreased and glucosuria results even if the plasma glucose level is normal.

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: 

Calado J et al. (2006) Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting.
Wright EM et al. (2001) Renal Na(+)-glucose cotransporters.