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

BBS2 gene

The BBS2 gene is responsible for autosomal recessive Bardet-Biedl syndrome 2.

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 02
BBS2

References:

1.

Kwitek-Black AE et al. (1993) Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.

external link
2.

Orphanet article

Orphanet ID 118982 external link
3.

NCBI article

NCBI 583 external link
4.

OMIM.ORG article

Omim 606151 external link
5.

Wikipedia article

Wikipedia EN (BBS2) external link
Update: Aug. 14, 2020
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