Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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2.

Orphanet article

Orphanet ID 118985 [^]
3.

NCBI article

NCBI 585 [^]
4.

OMIM.ORG article

Omim 600374 [^]
5.

Wikipedia article

Wikipedia EN (BBS4) [^]
Update: April 29, 2019