Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

BBS5 gene

The BBS5 gene is responsible for autosomal recessive Bardet-Biedl syndrome 5.


Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 10
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Bardet-Biedl syndrome 05



Li JB et. al. (2004) Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.

Update: Sept. 26, 2018