Genetic testing and genetic counseling services that may be used by any retinal healthcare provider capable of diagnosing an inherited retinal disease.
Testing is provided through collaboration of Blueprint Genetics, Informed DNA and the Foundation Fighting Blindness.
Invitae is offering a genetic testing program sponsored by Spark® Therapeutics at no charge for individuals suspected of having an IRD. This program provides access to a broad IRD genetic panel that tests approximately 250 genes for variants that are known to cause IRD. See website for full details, terms and conditions.
JScreen is a non-profit genetic education and screening program for Jewish genetic diseases. The JScreen test is designed for individuals between the ages of 18-45 who want to know if they are at increased risk to have a child with a genetic disease, including Usher syndrome. Need-based financial assistance is available for those who qualify.