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Bardet Biedl Syndrome (BBS)


Bardet-Biedl syndrome is a rare autosomal recessive ciliopathy with multisystemic compromise, affecting vision, kidneys, and eventually heart, liver and digestive system. Obesity, mental retardation, hypogonadism and polydactilia are  common findings. The prevalence is 1: 100 000. Although near 21 genes have been described, mutations in BBS1 and BBS10 account for the majority of genotypes (51% and 20% respectively)

Why to perform genetic testing in cases with suspected BBS?

  • To confirm the diagnosis
  • To better perform risk stratification and prognosis
  • To select the best therapeutic option for that specific patient based on the genotype
  • To identify other relatives at risk to develop the disease


Our BBS panel

ARL6, BBS1, BBS2, BBS4, BBS5,  BBS7,  BBS9, BBS10,  BBS12, C8ORF37, CEP290, LZTFL1, MKS1,  MKKS, TTC8, WDPCP

Important: All our panels can be modified based on the phenotype. Please contact us if you have questions

What to expect from this test: The yield of the genetic test is near 80%


Recommended Literature

  • Khan SA et al., Genetics of human Bardet–Biedl syndrome, an update. Clinical Genetics. 2016;90(1):3-15.
  • Tsang SH, et al., Ciliopathy: Bardet-Biedl Syndrome. Adv Exp Med Biol. 2018;1085:171-174.
  • Kenny J. Toward personalized medicine in Bardet-Biedl syndrome. Per Med. 2017 Sep;14(5):447-456.


Download here interesting open access manuscripts on BBS