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

BBS4 gene

The BBS4 gene is responsible for autosomal recessive Bardet-Biedl syndrome 4.

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 04
BBS4

References:

1.

Carmi R et al. (1995) Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.

external link
2.

Orphanet article

Orphanet ID 118985 external link
3.

NCBI article

NCBI 585 external link
4.

OMIM.ORG article

Omim 600374 external link
5.

Wikipedia article

Wikipedia EN (BBS4) external link
Update: Aug. 14, 2020
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