For Patients

Learn about DNA testing for eye disease, how to work proactively with your eyecare professional, how to take better care of your vision, how to locate a physician for genetic testing, and more.

What is genetic testing?

A genetic test analyzes your DNA–the chemical building blocks of genes–to look for changes (mutations) that can cause certain diseases. Not only can genetic testing lead to a diagnosis of certain diseases, but it can also help detect certain risk factors that may tell you if you are likely to develop a disease.
  • There are many ways to conduct a genetic test; with the AvaGen test from Avellino, a simple swab of the inside of your cheek is all it takes
  • The swab collects a sample of cells that is then transferred to a vial containing a preservative solution. This sample is then sent to our lab where Avellino sequences the genes and identifies mutations that may indicate a disease or a risk for a disease

If your eyecare professional is able to diagnose, treat, or manage your disease earlier, it may make a big difference to your overall eye health and vision.

Talk to your physician or eyecare professional about testing.

Why should I get my eyes tested?

Genetic testing is an important step in diagnosing diseases, such as keratoconus or corneal dystrophies. When your doctor suspects that you may have a genetic disease or could develop one in the future, it’s important to get tested so you can confirm a diagnosis or risk factors and take appropriate steps.

These steps might include treatment or preventive measures, such as not rubbing your eyes or avoiding certain types of eye surgery, which could make your condition worse.

Remember, the earlier you identify a disease, the more opportunities you may have to treat the disease or slow the progression.

Learn more about genetic testing in the AvaGen patient brochure.

This brochure explains AvaGen and why it may be right for you. Read how the test works, learn about keratoconus and corneal dystrophies, find out how to locate a genetic counselor, and more.

The AvaGen™ Genetic Eye Test

AvaGen™ delivers precise, genetic data for personalized eyecare decisions.

  • Personalized:  AvaGen™ uses DNA to accurately assess your individual genetic risk or likelihood of keratoconus, and determine if you have a corneal dystrophy.
  • Preemptive: As a genetic test, AvaGen™ relies on your DNA and not physical changes in your eye, allowing for earlier detection and proactive management.
  • Painless: A DNA sample is simply taken from the inside of your cheek with a cotton swab.

AvaGen™ helps your doctor understand:

  • If you’re at risk for keratoconus.
  • If you have a corneal dystrophy.
  • Whether or not you can undergo corneal procedures, including vision-correction procedures like LASIK.

Quick, Easy, Non-Invasive Testing

The AvaGen™ genetic eye test provides information to help your doctor best protect and preserve your vision. The test only requires a few simple steps, and is performed quickly in the doctor’s office.


If your doctor recommends and orders the AvaGen™ genetic eye test for you, it will most likely happen on the same day of your office visit.


Your doctor will swab the inside of both your cheeks to collect DNA.


The office sends your sample to the lab.


Your doctor will inform you of the results, answer any questions you may have, and discuss potential next steps with you.


Comprehensive genetic counseling sessions are available for patients who have undergone testing with the AvaGen™ genetic eye test.

Genetic counselors are available to help you understand your genetic eye test results and implications for your family members.

How do I get tested?

Ask your doctor to order the AvaGen genetic test. After your doctor sends your sample to the lab, you may get results back as quickly as 5 days.

If your test confirms a risk for developing keratoconus or the presence of corneal dystrophy, you and your doctor may consider creating a management or treatment plan. You might also want to speak with a genetic counselor.

Avellino provides a network of genetic counselors if your test results reveal a risk or positive results. These counselors work with you and your doctor to provide further details that could help you moving forward. Read how the test works, learn about keratoconus and corneal dystrophies, genetic counseling, and more.

What about the privacy of my DNA?

How to get started

Test for your risk of keratoconus and corneal dystrophy

Your healthcare professional may be able to refer you to a doctor who performs genetic testing for determining your risk for keratoconus and the presence of corneal dystrophy. If you need more help, try our physician locator to find a doctor who performs genetic testing in your area.