Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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2.

Orphanet article

Orphanet ID 118982 [^]
3.

NCBI article

NCBI 583 [^]
4.

OMIM.ORG article

Omim 606151 [^]
5.

Wikipedia article

Wikipedia EN (BBS2) [^]
Update: April 29, 2019