AvaGen™ Genetic Test for Corneal Ectasias and Kera

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Last updated 12/9/2021

AveGen Genetic testing for eye disease

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.

 

Early diagnosis, treatment, and management of your disease makes a big difference in your overall eye health, vision, and treatment outcome. That’s why Assil Eye Institute is using the AvaGen test from Avellino.

How is AvaGen conducted?

There are many ways to conduct a genetic test, all this test needs is a simple swab of the inside of your cheek.

 

The swab collects a sample of cells that we transfer to a vial containing preservative solution. This sample is then sent to the lab where the genes are sequenced to identify mutations that may indicate the presence or risk for diseases such as Corneal Ectasias and Keratoconus.

 

Why should I get my eyes tested?

Genetic testing is an important step in diagnosing genetic diseases or those that run in your family. When we suspect that you may have a genetic disease, or you know that it runs in your family, it’s critically 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.

 

What are hereditary eye diseases?

Most people know that refraction errors such as myopia (nearsightedness), hyperopia (farsightedness), and astigmatism are genetically determined. But many eye diseases also have a genetic link. 

 

Research suggests glaucoma and age-related macular degeneration (two of the leading causes of blindness) are both often genetically inherited. 

The AvaGen genetic eye test assesses your genetic risk for keratoconus and corneal dystrophy. Corneal dystrophy actually covers a group of over 20 rare, genetic diseases that affect the cornea.

 

 

The AvaGen Genetic Eye Test

Genetic testing for eye disease, Assil Eye Institute
Typical granular deposits and corneal topographies are observed in the corneas of the right (A) and left (B) eyes of Case 2 (father). 

AvaGen delivers precise genetic data for personalized eyecare decisions. Your DNA is used to accurately assess your individual risk or likelihood of keratoconus and determine if you have a corneal dystrophy.

 

AvaGen is also painless and proactive. Because the rest relies on your DNA and not physical changes in the eye, detection of diseases can be made easier and earlier. And because the test obtains your DNA via cotton swab, there is no uncomfortable exam required.

 

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 us with information to best protect and preserve your vision. The test only requires us to swab the inside of both your cheeks to collect your DNA.

 

What then? 

We should get your results back in about a week. If your test confirms a risk for developing keratoconus or the presence of corneal dystrophy, we will need to create a management or treatment plan for you. You might also want to speak with a genetic counselor.

 

Who is Avellino? 

Avellino is an innovative global genetics company focused on precision medicine. They are working to provide the tools necessary for doctors to diagnose diseases in patients 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.

 

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