Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

BBS2 gene

The BBS2 gene is responsible for autosomal recessive Bardet-Biedl syndrome 2.


Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Bardet-Biedl syndrome 02



Kwitek-Black AE et. al. (1993) Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.

Update: Sept. 26, 2018