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 genetics 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 with clear diagrams. 

  • 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 two resources for genetic testing:


The Foundation Fighting Blindness, Blueprint Genetics, and InformedDNA have recently 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. 

Testing must go through your healthcare provider. To learn more about this free program, go to My Retina Tracker Program.


Genetic testing at University of Iowa's Carver Nonprofit Genetic Testing Lab: 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 find out your results, make sure you join or update your record in the USH Trust, the largest international Usher syndrome registry. The USH Trust is our most powerful tool in bridging the gap between the USH community and researchers.