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AvaGen Keratoconus Genetic Testing

Close up image of bulging cornea with keratoconus.
Bulging cornea with keratoconus.

We have great news for patients with Keratoconus who have family members that could also be at risk: AvaGen now offers a genetic test that quantifies the risk of Keratoconus and other corneal genetic disorders. In Focus is offering the test free of charge to those who qualify for a limited time. Learn more below!

What is keratoconus? Keratoconus is a genetic eye condition that occurs when the cornea (the clear, rounded front part of the eye) thins and bulges into a cone-like shape. It can cause symptoms such as blurred vision, seeing glare and halos around light, eye pain, and sensitivity to light. If left untreated, the cornea will continue to change shape, and vision will progressively worsen over time. In advanced cases, keratoconus may result in a corneal transplant. Why is it important to diagnose early? The earlier keratoconus is detected, the better it can be managed to avoid vision loss and corneal transplants. As a genetic test, AvaGen relies on your DNA and not physical changes in your eye, allowing for earlier detection and proactive management. What is the AvaGen Genetic Test? The AvaGen genetic eye test is taken with a quick simple buccal (mouth) swab to collect samples. After filling out a few intake forms, the swab is administered in the office, and then sent to the AvaGen lab for analysis. The appointment would last less than 30 minutes.

How does it work?

Samples are analyzed in a lab. Patients receive their results via a HIPPA-compliant portal. Once results are administered, AvaGen counseling is available for those with at-risk or positive test results to determine how likely it is that you or your family member has a genetic condition. Genetic counseling after testing can help you better understand your test results and treatment options, help you deal with emotional concerns, and refer you to other healthcare providers, advocacy, or support groups.

Who should take it?

The AvaGen test is ideal for biological relatives (siblings, children, niblings) of a person diagnosed with Keratoconus who have not yet been diagnosed with the eye condition. It is also ideal for those with high or progressive nearsightedness of astigmatism, or those with a family history of corneal spots, corneal dystrophy, vision changes, or a family member who had a corneal transplant for unknown reasons.

You might qualify for a free test:

If you have keratoconus and you have undiagnosed, biological relatives who could benefit from an AvaGen test, contact us to see if they qualify for a free AvaGen test at In Focus!

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