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.
Usher Syndrome Type IIIA
What Your Test Results Mean:
Test results indicate that you are a carrier of Usher syndrome type IIIA. Carriers are not expected to show symptoms. You and your partner would both have to be carriers of Usher syndrome type IIIA 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.
Usher syndrome type IIIA is an inherited disorder characterized by severe-to-profound hearing loss and vision loss that worsens over time. Individuals with this type of Usher syndrome typically have normal hearing at birth and begin to experience hearing loss during late childhood or adolescence, after the development of speech, and the hearing loss becomes more severe over time. Vision loss begins in late childhood or adolescence and progressively worsens over time. Some individuals with Usher syndrome type IIIA may also experience difficulties with balance due to the development of inner ear abnormalities.
Individuals have severe hearing and vision impairment. The condition does not affect a person’s life expectancy or intelligence.
Treatment is mostly supportive; there is no cure. Optimizing communication is important. Because hearing loss is post lingual, speech is maintained; however, some individuals opt to learn sign language while others opt for hearing aids or cochlear implantation. Routine eye exams are recommended.
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