What Does NxGen MDx Screen For?
We screen for up to 120 genetic disorders that can affect your pregnancy, the health of your baby, and your family's future. You can learn more about our various screens — and which sets of screens (or "panels") align with where you are in your reproductive journey.
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.
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%.