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. If you live outside of the USA, check your country's USH Ambassador page for genetic testing resources.

Want to learn more about hearing loss and genetic testing? The US 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 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

  • 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.

  • The Carver Lab is pleased to announce the beginning of a new era in terms of our ability to offer affordable molecular genetic testing for inherited eye conditions to patients and their families. A two-year, multi-phase project has resulted in a sophisticated, yet user-friendly approach to applying for a genetic test.

    This Online Ordering and Tracking System is specifically designed to enhance communication between a patient, his or her physician and the Carver Lab. Key to this new process is an Online Test Requisition form. While any and all tests must be ordered through a referring physician, the patient will be able to, for the first time, walk away from an appointment with a unique, confidential “Identifier” – a computer generated number assigned which will allow the patient, and his or her physician, to keep close track of the status of a test. From the day a blood sample arrives in the Lab, to the day a test result report is forwarded to the referring physician, the status of a genetic test in progress is now available online.

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.