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

BBS12 gene

The BBS12 gene is responsible for autosomal recessive Bardet-Biedl syndrome 12.

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 12
BBS12

References:

1.

Stoetzel C et al. (2007) Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

external link
2.

Orphanet article

Orphanet ID 137646 external link
3.

NCBI article

NCBI 166379 external link
4.

OMIM.ORG article

Omim 610683 external link
5.

Wikipedia article

Wikipedia EN (BBS12) external link
Update: Aug. 14, 2020
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