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.

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.

Who is Avellino?

Avellino is an innovative global genetics company focused on precision medicine. We are working to provide the tools necessary for doctors to diagnose diseases in patients much earlier than ever before, and to develop the genetic therapies necessary to eradicate those diseases once and for all.

What about the privacy of my DNA?

Genetic information, just like your medical records, is private. When you get tested with the AvaGen genetic test, your DNA will be securely stored within your electronic medical records and also securely within the Avellino database. This information will be available to you upon request to assist with other health conditions in the future.

Learn more about Avellino’s genetic data privacy practices here.

Find a doctor

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.



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