You have questions
about your IRD.
Genetic testing may provide the answer.
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HOW GENETIC TESTING WORKS.
Genetic testing is a process that may identify changes or mutations in a person's genes. Because genetic mutations may cause health issues, genetic testing could help explain how and why a disease affects a person. For those with an inherited retinal disease (IRD), it may identify the cause of vision impairment.
If you had a negative or inconclusive genetic test more than 5 years ago, think about getting tested again.
Genetic tests have evolved with the identification of new genes, and one of the latest tests may provide more information. The ID YOUR IRD gene testing initiative will not be able to provide genetic information to everyone with an IRD, but the initiative aims to help inform as many people as possible. Participation is subject to the terms and conditions of the ID YOUR IRD initiative.
ID YOUR IRD PROVIDES 1 OF 3 TYPES OF RESULTS.
A positive result means that the test found a mutation (or mutations) on a specific gene that is known to cause an inherited retinal disease.
A negative result means that the test did not identify a genetic cause of disease - but this does not rule out the diagnosis of an inherited retinal disease. The ID YOUR IRD gene panel only includes a select number of genes in which mutations have been found to cause certain early-onset, rod-mediated IRDs. There are many genes in which mutations have been found to cause IRDs and additional testing may be available through your doctor.
An inconclusive result (also known as a "variant of uncertain significance") means that one or more mutations were found, but it is not yet known whether these mutations cause disease. An inconclusive test result does not rule out the diagnosis of an inherited retinal disease and, with time, research may reveal more information about these variants and their association with IRDs. Genetic counseling may help with the understanding of an inconclusive result and additional testing may also provide more information.
ID YOUR IRD can only provide information about retinal diseases.
As an IRD genetic test, results can only reveal information about certain genes that may affect your vision, and cannot provide any information about other diseases such as cancer or diabetes.
Doctors help you interpret ID YOUR IRD results.
Genetic test results can sometimes be unclear or hard to interpret—but your doctor can help. They guide you through the testing journey and can answer questions about your results, or refer you to someone who can. You can also ask your Patient Liaison from Spark Therapeutics to put you in touch with a genetic counselor to discuss your results, at no cost to you.