Usher Syndrome Genetic Testing Initiatives

There are many causes of combined hearing and vision loss. Genetic testing is the only way to know for sure if you have Usher syndrome.

Want to learn more about hearing loss and genetic testing? The Centers for Disease Control and Prevention has an excellent publication called "A Parent's Guide to Genetic Testing and Hearing Loss." It’s written in plain language. 

  • Testing can confirm what type of USH you have so that you can manage your life and health better.
  • Testing can tell you if you don't have Usher syndrome. If that is the case, you can talk to your doctor about other possible causes.
  • You need genetic confirmation (proof) of Usher syndrome if you want to apply to participate in research (clinical trials). 

Genetic testing can be expensive. Insurance will not always pay.

Here are some resources for free genetic testing:

  • The Foundation Fighting Blindness, PreventionGenetics, and InformedDNA have partnered to offer free genetic testing and genetic counseling for individuals with a suspected inherited retinal disease (IRD) living in the United States. Vision loss in Usher syndrome is caused by retinitis pigmentosa, which is an inherited retinal disease.

    To learn more about this free program, go to My Retina Tracker Genetic Testing Program.

    UPDATE: Patients can now request their own appointment with an ocular genetic counselor, who can order genetic testing through the My Retina Tracker Genetic Testing Program! The genetic testing itself is available at no cost to the patient; however, patients are responsible for the cost of the appointment, which may be covered by insurance or paid out-of-pocket.

    To schedule an appointment, patients can self-refer by calling 800-975-4819. For information about accepted insurance plans, visit the “For Patients” page on the InformedDNA website, or call to confirm coverage directly.

  • The Resonate® program offers genetic testing and counseling for individuals with sensorineural hearing loss, sponsored by Akouos. Akouos is a precision genetic medicine company that is focused on developing potential gene therapies to improve hearing. They have recently launched the Resonate program for individuals with sensorineural hearing loss. This program provides genetic testing for almost 300 genes linked to hearing loss at no cost to you, your insurance, or your healthcare providers. Download Brochure

  • This is a collaborative effort with Project Usher at the Institute for Vision Research to ensure everyone with Usher syndrome has access to genetic testing.

    To participate, patients should:

    • Have a confirmed or suspected diagnosis of Usher syndrome based on clinical symptoms, as assessed by their treating physician. (For example, your doctor thinks you may have Usher syndrome based on your hearing, vision and/or balance issues.)
    • Work with a physician or genetic counselor to order genetic testing.

WHEN YOU GET YOUR RESULTS

When you find out your results, make sure you join or update your record in the USH Trust, the largest international Usher syndrome contact database. The USH Trust is our most powerful tool to connect the community and bridge the gap between the USH community and researchers.

Genetic Carrier Screening

  • This test is designed to assess an individual or couple’s risk for having a child with a genetic disease. This panel includes tests for carriers of Usher types 3A and 1F.