Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

BBS4 gene

The BBS4 gene is responsible for autosomal recessive Bardet-Biedl syndrome 4.


Clinic Method Genomic sequencing of the entire coding region
Turnaround 10 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Bardet-Biedl syndrome 04



Carmi R et. al. (1995) Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.

Update: Sept. 26, 2018