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

BBS5 gene

The BBS5 gene is responsible for autosomal recessive Bardet-Biedl syndrome 5.

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 05
BBS5

References:

1.

Li JB et al. (2004) Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.

external link
2.

Orphanet article

Orphanet ID 118987 external link
3.

NCBI article

NCBI 129880 external link
4.

OMIM.ORG article

Omim 603650 external link
5.

Wikipedia article

Wikipedia EN (BBS5) external link
Update: Aug. 14, 2020
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