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.
Nonsyndromic Hearing Loss, FOXI1-Related
What Your Test Results Mean:
Test results indicate that you are a carrier of nonsyndromic hearing loss, FOXI1-related. Carriers are not expected to show symptoms. You and your partner would both have to be carriers of nonsyndromic hearing loss, FOXI1-related and/or nonsyndromic hearing loss, FOXI1-related 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.
Nonsyndromic hearing loss, FOXI1-related is a rare form of inherited hearing loss. The hearing loss often develops shortly after birth and is often severe to profound, although mild-to-moderate progressive hearing impairment also occurs. The condition causes differences in the way the inner ear forms, including enlarged vestibular aqueduct, which can lead to problems with balance and coordination. Some people with nonsyndromic hearing loss, FOXI1-related may also have a kidney condition known as renal tubular acidosis. People with this condition have kidneys that do not remove enough acidic compounds from the body. As a result, they can have nausea, vomiting, dehydration, and problems with feeding and gaining weight. Short stature, kidney cysts and stones, weak bones, and muscle paralysis can also be seen. Renal tubular acidosis with deafness usually presents in infancy with failure to thrive. Hearing loss usually begins between childhood and young adulthood, and the hearing loss gradually gets worse over time.
Prognosis is generally favorable, as the condition does not affect life expectancy.
There is no cure for Nonsyndromic hearing loss- FOXI1 related. Treatment options may include hearing aids, cochlear implants, speech therapy, and educational programs for the hearing impaired.
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