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.
What Your Test Results Mean:
Carriers are not expected to show symptoms. You and your partner would both have to be carriers of an SLC35A3-related disorder for there to be an increased chance to have a child with symptoms; this is known as autosomal recessive inheritance. Carrier testing of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment.
Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.
An SLC35A3-related disorder is an inherited condition that is characterized by arthrogryposis (immobility of the joints due to muscle fibrosis), intellectual disabilities, and seizures. In addition, individuals may have small head size, poor muscle tone, and a diagnosis of autism.
Prognosis is currently unknown, as it has only been noted in a small subset of individuals.
Treatment is supportive and symptomatic, as there currently is no cure. Anti-seizure medications help with seizures and physical and occupational therapy can be beneficial for affected individuals.
Talk to a Genetic Counselor
As a NxGen 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, call (855) 776-9436. or click the link below.Discuss Your Screening Results