Diagnostics

AvaGen is the new genetic test from Avellino that identifies risk for developing keratoconus and the presence of corneal dystrophies. AvaGen will be available in the U.S. late 2019/early 2020.

A preemptive diagnostic tool, AvaGen gives physicians and patients the advantage of earlier detection to help make informed choices for healthier eye and vision care.

Available in the U.S. late 2019/early 2020.

Why choose AvaGen for your patients

The ability of genetic tests such as AvaGen to detect potentially pathogenic or deleterious variants before symptoms appear can assist eyecare professionals in recommending prevention management techniques, treatments, and refractive surgery options.

Physicians can work hand-in-hand with patients to implement healthy eyecare practices years or even decades earlier than before, potentially delaying the onset or progression of eye-related diseases.

Impacting outcomes through early identification and diagnosis

While some genetic eye diseases such as keratoconus cannot be prevented, early intervention may help slow the onset or progression of the disease. Early intervention could potentially change outcomes in the long term, making a significant impact on quality of life for some patients.

See early prevention and improved outcomes.

American Academy of Ophthalmology (AAO) recommendations1

The AAO genetic task force states:

  • Genetic testing can make a very positive impact on individuals and families affected with inherited eye disease. Mutations in a single gene and the detection of the responsible mutations can predict the development of the disease with relatively high accuracy
  • Clinicians should offer genetic testing to patients with clinical findings suggestive of Mendelian disorder whose causative gene(s) have been identified, such as the TGFBI gene
  • Testing should be performed under the direction of a physician and/or genetic counselor so that appropriate interpretation and counseling can be provided
  • Testing should be completed and processed through a CLIA-certified lab

Genetic counseling network

Avellino offers a genetic counselor network at no cost to help support physicians and their patients who receive at-risk or positive test results. Genetic counselors provide further explanation of what the test results may mean for patients and how they might affect the family. This added support may help with the creation of a plan of action for moving forward.

For more information on the genetic counselor network, contact Avellino.


Learn more


References

1. American Academy of Ophthalmology. Recommendations for Genetic Testing for Inherited Eye Diseases, 2014.
https://www.aao.org/clinical-statement/recommendations-genetic-testing-of-inherited-eye-d. Accessed August 12, 2019.

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