Bardet-Biedl Syndrome (BBS1-related)
What Your Test Results Mean:
Carriers are not at risk to develop symptoms of the disorder, but have an increased risk of having a child with Bardet-Biedl syndrome. Risk for the current or future pregnancies is dependent on your partner’s carrier status. Carrier testing of your partner is recommended in addition to consultation with a genetic counselor.
Bardet-Biedl syndrome is an inherited condition of progressive vision loss, obesity, extra digits, intellectual disability, kidney disease, and abnormalities of the genitalia. There is no cure for Bardet-Biedl syndrome, but symptomatic management may alleviate some health issues. Individuals with Bardet-Biedl syndrome can live well into adulthood, but kidney disease is a major cause of early death.
How the Genetics Works:
Bardet-Biedl syndrome is an autosomal recessive disorder caused by pathogenic variants in a variety of genes. Variants in the BBS1 gene cause of over 20% of Bardet-Biedl syndrome cases. In general, individuals have two copies of the BBS1 gene. Carriers of Bardet-Biedl syndrome have a single variant in one copy of the BBS1 gene while individuals with Bardet-Biedl syndrome have variants in both copies of their genes, one inherited from each parent. Risk for two carriers to have a child with the disorder is 25%.
Talk to a Genetic Counselor
As a Clarity client, you'll have access to personal genetic counselors who can help explain the results of your screens and provide insight on how to move forward. To schedule a personal conference to discuss your screen results, click the link below or call(866) 661-7966Discuss Your Screening Results