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, GJB3-Related
What Your Test Results Mean:
Test results indicate that you are a carrier of nonsyndromic hearing loss, GJB3-related. Carriers are not expected to show symptoms. You and your partner would both have to be carriers of nonsyndromic hearing loss, GJB3-related and/or nonsyndromic hearing loss, GJB2-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, GJB3-related is an inherited condition that affects a part of the inner ear called the cochlea, preventing auditory information from being transmitted to the brain. The condition causes mild-to-severe sensorineural hearing loss that is present from birth and usually not progressive. Other variants in the GJB3gene cause a skin disorder known as erythrokeratodermia variabilis et progressiva, which is characterized by patches of abnormally thickened skin and temporarily reddened patches of skin.
Prognosis is generally favorable, as the condition does not affect life expectancy.
Management may consist of hearing aids and enrollment in appropriate educational interventions. Cochlear implantation may be considered for individuals with profound deafness.
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