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Avellino launches genetic test for keratoconus


Avellino Lab USA, Inc. has launched AvaGen, the first genetic test that determines risk for keratoconus and other corneal dystrophies.

Related: Understanding genetic testing for hereditary disease

“The test is great for patients who know they have keratoconus to see if their children or other relatives have the disease,” says Stephanie Woo, OD, FAAO, FSLS, in practice in Las Vegas, Nevada, during the company’s press conference at Vision Expo West in Las Vegas.

AvaGen examines 75 keratoconus-related genes and more than 2,000 variants—along with ethnic variations because they affect disease prevalence—to devlop a keratoconus genetic risk score, according to the company. Test results show low, moderate or high risk for the disease. It also determines the presence of 70 gene variants for corneal dystrophies, including epitheliam basement membrane, granular and lattice, Avellino, Reis-Bucklers, Schnyder, and Theill-Behnke. Results show yes or no for the presence of corneal dystrophies.

Related: Blog: A parent's perspective on genetic testing

AvaGen is easily administered in-office via cheek swab. Practitioners mail the sample to the company’s lab, and results arrive in about two weeks. Avellino provides comprehensive genetic counseling for practitioners and patients for added support.

Currently, AvaGen is private pay with an approximate cost of $300. A CPT code does not yet exist, and the company is evaulating reimbursement possibilities.

“This is a good test if you don’t have a good gut feeling about a patient,” says Woo.

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