Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

BBS4 gene

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

Genetests:

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 04
BBS4

References:

1.

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

[^]
Update: Sept. 26, 2018