As a global leader in precision medicine, Avellino focuses on innovative and cutting-edge tools and
therapies, empowering eyecare professionals to achieve more for their patients and practices.
Combining next-generation sequencing, advanced AI, and traditional science, our preemptive diagnostics potentially change outcomes—most notably with AvaGen, our new test for ophthalmology—available in the U.S. in late 2019/early 2020.
A preemptive diagnostic tool, AvaGen can pinpoint genetic conditions years before symptoms even appear
AvaGen opens the door to expedited treatment, proactive and preventative management, and improved
Administered with a simple cheek swab, AvaGen determines risk for keratoconus and the presence of corneal dystrophies
As a technology pioneer, our mission is to empower healthcare professionals to achieve accurate and
timely solutions. Avellino’s full-service model for diagnostics and therapy ensures that genetic data is
the basis for development and a continual confirmation tool for the success of all therapies.
Keratoconus is a corneal ectatic disorder, characterized by genetic heterogeneity, requiring a
comprehensive sequencing method able to detect rare DNA variants.1 At Avellino, we recognized
that earlier identification of keratoconus was an unmet need that needed to be addressed.
A recent study found keratoconus prevalence to be much higher than previously estimated, at 265 cases
per 100,000 (1 in 375) within a population group of 4.4 million.2 In certain population
groups, keratoconus incidence can be as high as 1 in 20.3
Utilizing a custom panel and next-generation sequencing, AvaGen is able to detect rare variants that
are integral to the etiology of complex, multifactorial diseases, such as keratoconus.
1. Data on file, Avellino Labs USA, Inc.
2. Godefrooij DA, de Wit GA, Uiterwaal CS, et al. Am J Ophthalmol. 2017;175:169-172.
3. Torres-Netto, EA, Al-Otaibi WM, Hafezi NL, et al. Br J Opthalmol. 2018;102(10):1436-1441.