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Subspecialties Imaging & Diagnostics, Cornea / Ocular Surface, Business and Innovation, Practice Management

Targeted Gene Testing

sponsored by Avellino

We are in a golden age of science, with tremendous leaps being made particularly in genomics. And it is now possible for the ophthalmology community to leverage the power and promise of genetic information to benefit patients.

AvaGenTM from Avellino is the first genetic test that quantifies the genetic risk of keratoconus and presence of TGFBI related corneal dystrophies. It uses nextgeneration sequencing (NGS) to target both the 75 genes and more than 2,000 variants associated with keratoconus, while also targeting 70 variants of the TGFBI gene for stromal corneal dystrophies. 

As keratoconus is a debilitating genetic disease that is often misdiagnosed, AvaGen is an important step ophthalmologists can take to diagnose the condition earlier, which can make a significant difference toward preserving vision over a lifetime. 

AvaGen empowers more confident patient management by providing a polygenic risk score (PRS) for keratoconus, and a “yes” or “no” indication for corneal dystrophies. The results can help rule patients “in” or “out” for refractive surgery; identify the genetic risk of disease among family members; and help inform patients with suspect topographies or progressive vision changes.

The patient sample is taken via a simple cheek swab and processed in Avellino’s CLIAcertified lab. The results are available to the doctor via a HIPAA-compliant portal and complimentary genetic counseling is available.

Avellino expects to expand AvaGen in 2022 to test for additional ocular diseases with a broadened panel, as well as offering a genetic test for Fuchs’ dystrophy and glaucoma.

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