Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

BBS1 gene

The BBS1 gene is responsible for autosomal recessive Bardet-Biedl syndrome 1.

Genetests:

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 01
ARL6
BBS1
CCDC28B
TMEM67

References:

1.

Leppert M et. al. (1994) Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

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Update: Sept. 26, 2018