What Your Test Results Mean:

Carriers are not expected to show symptoms. You and your partner would both have to be carriers of 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.

Disease Explained:

Nonsyndromic hearing loss, GJB2-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.

Prognosis

Prognosis is generally favorable, as the condition does not affect life expectancy or cause additional symptoms beyond hearing loss.

Treatment

Management may consist of hearing aids and enrollment in appropriate educational interventions. Cochlear implantation may be considered for individuals with profound deafness.