Scientific background:

Summary: The gene CEP290 encodes nephrocystin-6 a centrosomal protein. Mutations cause various autosomal recessive disorders including nephronophtisis 6, Leber congenital amaurosis 10, Joubert syndrome 5, Meckel syndrome 4, Senior-Loken syndrome 6 and Bardet-Biedl syndrome 14.

Methodology:

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

Sayer JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Valente EM et al. (2006) Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.