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 1F/PCDH15-Related Disorders
What Your Test Results Mean:
Test results indicate that you are a carrier of Usher syndrome type IF/PCDH15-related disorders. Carriers are not expected to show symptoms. You and your partner would both have to be carriers of Usher syndrome type IF/PCDH15-related disorders 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 IF/PCDH15-related disorders are a group of inherited disorders characterized by severe-to-profound hearing loss and vision loss that worsens over time. The hearing loss is usually present at birth, and vision loss begins in childhood and progressively worsens over time. Hearing loss is caused by inner ear abnormalities. The inner ear is what also helps maintain the body’s balance and orientation in space; therefore, individuals with Usher syndrome type IF/PCDH15-related disorders can also have problems with balance and delayed motor milestones as a result. Many individuals do not develop speech and benefit from learning alternative forms of communication such as sign language.
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 at an early age is important. Hearing aids are usually not effective for Usher syndrome type IF/PCDH15-related disorders, and some individuals opt for 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