Bardet-Biedl syndrome


Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder caused by mutations in at least 14 known genes. The estimated incidence of BBS in Northern Europe and USA is between 1/100,000 and 1/160,000, however it is higher in other specific populations. There is evidence that some BBS families may show an oligogenic mode of inheritance (Katsanis et al. Science (2001) 293: 2256-2259; Beales et al. Am. J. Hum. Genet. (2003) 72:1187-1199).

Also known as


Request a test

When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.

Additional information

Next generation sequencing panel of 21 genes. For additional information please click on the link

Sending address

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

Next generation sequencing panel screen 80 days, familial mutation testing 20 days

Disease / group



Upon request

Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

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