Scientific background:

Summary: Mutations of nephrocystin 4 cause autosomal recessive juvenile nephronophthisis 4.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		20 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: 

Hoefele J et al. (2005) Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
Mollet G et al. (2005) Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.
Hoefele J et al. (2004) Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene.