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).
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Next generation sequencing panel of 13 genes. For additional information please click on the link
Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
1ml EDTA neonates, 5ml EDTA adults
Next generation sequencing panel screen 80 days, familial mutation testing 10 days
Disease / group
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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