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Steps for genetic testing

Clinically examine your patient

Clinically examine your patient and obtain their full medical and family history1:

  • Patient may have a family member with a positive genetic test result. If possible, order the same genetic panel as their tested family member
  • Patient may want to confirm research lab results
Partner with a genetic counselor or genetic specialist
Order the appropriate genetic test
If you have limited access to ordering a genetic test, refer your patient to a specialist.
Collect a saliva or blood sample
Discuss the results with your patient
Step 1
Step 2

Genetic test submission and result reporting may vary based on location. Please follow the appropriate local guidelines when ordering a genetic test.

Partnering with a genetic counselor or genetic specialist to help set clear expectations for patients before and after genetic testing is critical1

Before the genetic test

Before the genetic test, reassure your patients:

  • They are taking an active role in their eye health by choosing to get a genetic test
  • Genetic testing can help confirm an inherited retinal disease diagnosis, but it does not always guarantee one5
  • No matter what the results may show, being more informed helps them make educated decisions about their health and their future
  • While many inherited retinal disease-related genes have been identified, there are many more yet to be discovered, which may explain why testing may yield a negative or inconclusive result in some cases1,6
  • Sometimes, results may provide insights into their future risk for eye disease as well as the potential to prevent and treat any systemic complications associated with inherited retinal diseases2
After the genetic test
If a genetic test is negative or inconclusive

Some inherited retinal diseases may share similar symptoms with other eye conditions that do not have a primary genetic etiology.11 A genetic test may more precisely confirm your patient’s diagnosis. Genetic counselors can partner with you to determine the best course of action for your patients.1

From identification to clinical trial eligibility

Early genetic testing allows you to detect inherited retinal diseases sooner, and uncover more possibilities for your patients, such as potential treatments or clinical trials.12,13

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Find a genetic counselor near you Partner with a genetic counselor to create a care plan that's right for your patients. Use this link to find your trusted partner in eye care.

Locate a genetic counselor

Affordable genetic testing is available

Genetic testing may be available through your patients’ insurance. Also, genetic testing at reduced or no cost may be available to so many in need, thanks to initiatives such as*:

Foundation Fighting Blindness’ My Retina Tracker Genetic Testing Program

*Listed program is US-only.

Gene therapy: Changing the future of eye care

Take a look at how science has advanced through the years and learn about the various clinical trials that are underway.

Explore the innovations

Empower your patients with a sense of community

Connect your patients with communities they can learn from and be inspired by.

View patient & family resources