Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

BBS1 gene

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

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 20 days
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.

external link
2.

Orphanet article

Orphanet ID 118975 external link
3.

NCBI article

NCBI 582 external link
4.

OMIM.ORG article

Omim 209901 external link
5.

Wikipedia article

Wikipedia EN (BBS1) external link
Update: Aug. 14, 2020
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