Genetic Testing for Hearing Loss

  • What to Expect

    A Visit with a Clinical Geneticist or Genetic Counselor

    A clinical geneticist is a physician who has special training in determining the causes of various disorders like hearing loss. A clinical geneticist often works with a genetic counselor. A genetic counselor is a master’s-level professional who is specially trained to explain genetic information to families and to help them to use that information in making medical decisions.

    A clinical geneticist and genetic counselor may:

    • Identify a particular genetic syndrome as the cause of a child’s hearing loss
    • Help the family understand the process of genetic testing
    • Arrange for appropriate genetic tests
    • Interpret genetic test results in a meaningful way
    • Support family members as they use genetic test results to make medical decisions.

    Your First Visit

    During your first visit to the genetics clinic, you will be asked many questions about your child’s medical history, your pregnancy history and your family history. The geneticist will also examine your child to determine if there are any signs of a genetic syndrome related to hearing loss. The geneticist may also arrange for additional tests and a follow-up visit to discuss test results.

    Genetic Syndromes

    About 30 percent of children with SNHL have a genetic syndrome as part of their hearing loss. A syndrome is an association of medical problems that occur together and have a single cause. Genetic testing (on either a clinical or research basis) is available for many of these conditions.

    Some of the genetic syndromes associated with hearing loss include: 

    Syndrome

    Genetic Pattern

    Non-Hearing Related Disorders

    Pendred

    Autosomal Recessive

    Thyroid enlargement and dysfunction, temporal (ear) bone anomalies

    Waardenburg

    Autosomal Dominant

    Skin pigmentation, eye, and hair color, broad nose

    Branchio-oto-renal

    Autosomal Dominant

    Neck cysts, ear and kidney malformations

    Jervell and Lange-Nielsen

    Autosomal Recessive

    Cardiac arrhythmias

    Alport

    All types

    Kidney and some blood clotting problems

    Usher syndromes

    Autosomal Recessive

    Vision and balance problems

    Stickler

    Autosomal Dominant

    Vision problems, arthritis and unusual facial features

    Neurofibromatosis Type 2

    Autosomal Dominant

    Tumors of the hearing / auditory nerve

    Treacher-Collins

    Autosomal Dominant

    Unusual facial features

    Make an Appointment

    To schedule an evaluation for your child, contact the Ear and Hearing Center at 513-636-2171.