Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

BBS3 gene

The ARL6 gene is responsible for autosomal recessive Bardet-Biedl syndrome 3. In Bardet-Biedl syndrome 1, mutation in this gene can further modify the phenotype.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 10
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Bardet-Biedl syndrome 03
ARL6
Bardet-Biedl syndrome 01
ARL6
BBS1
CCDC28B
TMEM67

References:

1.

Sheffield VC et. al. (1994) Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.

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Update: Sept. 26, 2018