Scientific background:

Summary: Mutations of the CLDN19 gene, a constituent of tight junctions, cause the autosomal recessive disease of renal hypomagnesemia with ocular involvement.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		10 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: 

Konrad M et al. (2006) Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.
Lee NP et al. (2006) Kidney claudin-19: localization in distal tubules and collecting ducts and dysregulation in polycystic renal disease.
Luk JM et al. (2004) Sp1 site is crucial for the mouse claudin-19 gene expression in the kidney cells.
Angelow S et al. (2007) Renal localization and function of the tight junction protein, claudin-19.