Bardet-Biedl Syndrome (BBS10-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.

Disease Explained:

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. Approximately 20% of Bardet-Biedl syndrome cases are caused by variants in the BBS10 gene. In general, individuals have two copies of the BBS10 gene. Carriers of Bardet-Biedl syndrome have a single variant in one copy of the BBS10 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%.

Which Screens Are Right for You?

Determining which screens or set of screens are right for you will depend on where you are in your reproductive journey. Tell us where you are today so you can learn more about how to move forward tomorrow.

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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) 661-7966​

Discuss Your Screening Results