Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

BBS7 gene

The BBS7 gene is responsible for autosomal recessive Bardet-Biedl syndrome 7.

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 10 days
Specimen type genomic DNA

Related Diseases:

Bardet-Biedl syndrome 07
BBS7

References:

1.

Mykytyn K et al. (2002) Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

[^]
2.

Badano JL et al. (2003) Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

[^]
3.

Orphanet article

Orphanet ID 118990 [^]
4.

NCBI article

NCBI 55212 [^]
5.

OMIM.ORG article

Omim 607590 [^]
6.

Wikipedia article

Wikipedia EN (BBS7) [^]
Update: April 29, 2019