Bardet-Biedl syndrome


Description

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

BBS


Request a test

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


Additional information

Next generation sequencing panel of 13 genes. For additional information please click on the link


Sending address

Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square
London
WC1N 3BH

Laboratory service

Genetics


Sample requirements

1ml EDTA neonates, 5ml EDTA adults


Reference range

Not applicable


Turnaround time

Next generation sequencing panel screen 80 days, familial mutation testing 10 days


Disease / group

BBS


Cost

Upon request


Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis


Genetics

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

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