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

BBS10 gene

The BBS10 gene is responsible for autosomal recessive Bardet-Biedl syndrome 10.

Genetests:

Research 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 10
BBS10

References:

1.

Stoetzel C et al. (2006) BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

external link
2.

NCBI article

NCBI 79738 external link
3.

OMIM.ORG article

Omim 610148 external link
4.

Orphanet article

Orphanet ID 118978 external link
5.

Wikipedia article

Wikipedia EN (BBS10) external link
Update: Aug. 14, 2020
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