Centrosomal protein, 290-KD

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.

Genetests:

Clinic	Method	Carrier testing
	Turnaround	5 days
	Specimen type	genomic DNA

Clinic	Method	Massive parallel sequencing
	Turnaround	25 days
	Specimen type	genomic DNA

Clinic	Method	Genomic sequencing of the entire coding region
	Turnaround	20 days
	Specimen type	genomic DNA

Research	Method	Multiplex Ligation-Dependent Probe Amplification
	Turnaround	25 days
	Specimen type	genomic DNA

Related Diseases: