Scientific background:

Summary: The gene controls embryonic turning. Mutations cause situs inversus and infantile nephronophthisis.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		30 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: 

O'Toole JF et al. (2007) Mutational analysis in 119 families with nephronophthisis.
Gagnadoux MF et al. (1989) Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?
Haider NB et al. (1998) A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping.
Otto EA et al. (2003) Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
Mochizuki T et al. (1998) Cloning of inv, a gene that controls left/right asymmetry and kidney development.
Simons M et al. (2005) Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways.