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. 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%.