Overview of the testing process

Overview of the testing process

As you may already know, learning the specific gene mutation(s) that causes your or your family member’s inherited retinal disease (IRD) may lead to improved disease management or participation in clinical research.

Although the science behind genetic testing may be deeply complicated, the testing procedure itself is relatively simple.

See the step-by-step process below.


  • Knowing your exact gene mutation(s) helps you make informed decisions.
  • Providing a testing sample is typically straightforward.
  • Be sure to discuss the results with your healthcare professional (HCP).

Complex science. Straightforward testing process.

Click or tap on the arrow below to go through the steps.Expand each step below.

1.Get examined by an eye care specialist.
2.Provide a sample.
3.Discuss the results.
1. Get examined by an eye care specialist.

Get examined by an eye care specialist

Before genetic testing can begin, a clinical exam can provide important information about your disease, which will help your specialist determine the appropriate test for you. Ask your specialist any questions you have about genetic testing.

Need help with the conversation? Download HCP discussion guide.

Don’t have a specialist? Find a provider.

2. Provide a sample.

Provide a sample

Once your HCP orders the test, you will provide a cheek swab, saliva, or blood sample that will be sent to the lab. To provide a blood sample, expect the same kind of simple blood draw that is done for any other kind of common blood test.

3. Discuss the results.

Discuss the results

Depending on the genetic test selected, you can expect your results in a couple of weeks or months. Discussing the results with a genetic counselor or an HCP will provide you with the insight needed to determine your next steps.

Don’t forget to share the information with your family. Download family discussion guide.


Genetic Testing: A Professional’s Perspective

Watch Dr. Dawn DeCarlo talk about why genetic testing is important and how it may help people with inherited retinal diseases (IRDs) become advocates for their own treatment journey.

Watch the video


It’s worth getting a genetic test even if I had one in the past,
since technologies have improved.



Today’s tests identify more genes and are better than those of the past. If you got tested a few years ago and had a negative or inconclusive result, getting tested again may reveal something new. Genetic testing has improved over the years, and people with IRDs can now get tested for mutations in hundreds of genes in a single test.

Learn more about genetic testing

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