Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

BBS8 gene

The TTC8 gene is responsible for autosomal recessive Bardet-Biedl syndrome 8.

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 08
TTC8

References:

1.

Ansley SJ et. al. (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.

[^]
2.

Stoetzel C et. al. (2006) BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.

[^]
3.

Kubo A et al. (1999) Centriolar satellites: molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis.

[^]
Update: Sept. 26, 2018