Genetic Testing

Transforming health with groundbreaking diagnostics.

Why Genetic Testing?

Greater Knowledge Can Mean Better Outcomes


Population-based genomic study of complex genetic diseases and the application of novel algorithms to develop diagnostics that helps medical professionals improve clinical outcomes

Preventative Measures

Supporting public health with comprehensive PCR-based testing.

Advanced analysis and live surveillance of infectious disease and microbes at the genomic level to improve health outcomes


A custom-built platform that manages and analyzes large volumes of genomic data, aiding in cutting-edge approaches for clinical product development.


What is Keratoconus?

Keratoconus is a sight-threatening genetic eye disease that occurs when the cornea—the clear, rounded front part of the eye—thins and bulges into a cone-like shape. It can cause symptoms such as blurred vision, seeing glare and halos around light, eye pain, and sensitivity to light.

If left untreated, the cornea will continue to change shape, and vision will progressively worsen over time. In advanced cases, keratoconus may result in the need for a corneal transplant.

Why Specialize in Keratoconus?

Despite the severity of the disease, keratoconus can be difficult to diagnose and, in many cases, is misdiagnosed.

People experiencing blurred vision, eye irritation and strain, and other independently mild symptoms come to the optometrist’s or ophthalmologist’s office with no idea that they are developing a hereditary eye disease.

In the past, keratoconus and corneal dystrophy could only be diagnosed by a doctor physically examining the shape and appearance of the cornea with advanced imaging. This meant the disease may have gone undiagnosed and continued to progressively worsen until it permanently affected the individual’s vision.

This is why early and accurate diagnosis with AvaGen™ the Genetic Eye Test is a vital step for maintaining eye health.

In Avellino’s genetic testing for keratoconus, we supplement diagnostic data and environmental factors with genetic data analysis to diagnose suspected and asymptomatic patients early. This allows doctors to confidently make decisions about patient management and treatment.

How Do We Test?

AvaGen™ is the first genetic test that uses personalized genetic data to accurately quantify the risk of keratoconus and the presence of TGFBI corneal dystrophies. Preemptive screening allows eye care providers and patients to work together to plan for healthier vision moving forward, including earlier implementation of preventive strategies.

To test, eye care providers collect a sample from the patient with a simple buccal (cheek) swab.

They send the sample to Avellino for analysis, where our team of experts uses advanced automated machinery to identify any of the 75 genes or 2,000+ variants that indicate a risk for keratoconus.

Other tests on the market sequence 4 or fewer genes, with most sequencing only.1 When the analysis is complete, we upload the AvaGen report in the form of a polygenic risk score to our HIPAA-compliant portal. The test can also be used as an aid for clinical diagnosis and a tool prior to refractive surgery. For additional details read our white paper.

Who is affected & what are the implications?

The incidence of keratoconus is low,1 but some areas of the world are showing “epidemic outbreaks” — which is the result of a combination of both genetic and environmental factors coupled with improved and more readily accessible diagnostics.2

The incidence of keratoconus in the

UNITED STATES is 1 in 2000 people.3

In some geographic locations, prevalence is higher:

Saudi Arabia

1 in 21 people 4


1 in 375 people 5


86 per 1 million people


54.5 per 1 million people 6

1. Keratoconus. National Organization for Rare Disorders.

2. Alio J, ed. Keratoconus: Recent advances in diagnosis and treatment. Springer International Publishing; Cham, Switzerland. 2017.

3. Gordon-Shaag A, Millodot M, Shneor E, Liu Y. The genetic and environmental factors for keratoconus. Biomed Res Int. 2015;2015:795738.

4. Torres Netto EA, Al-Otaibi WM, Hafezi NL, et al. Prevalence of keratoconus in pediatrics patients in Riyadh, Saudi Arabia. Br J Ophthalmol 2018;102:1436-1441.

5. Godefrooij DA, de Wit GA, Uiterwaal CS, Imhof SM, Wisse RP. Age-specific incidence and prevalence of keratoconus: A nationwide registration study. Am J Ophthalmol 2017;175:169-172.

6. Barbara A, Ed. Textbook on keratoconus: New insights. Jaypee Brothers Medical Publishers; New Delhi, India. 2012.

Keratoconus Facts & Figures

600,000 Patients

makes up the U.S. keratoconus market. That comes out to 1.1M eyes

3.6 Million Adults

are at risk for keratoconus in North America

Frequent Rx Changes

are physical signs often overlooked as possible keratoconus

1 Out of 5 People

with keratoconus will need a corneal transplant

The Teenage Years

is often when keratoconus progresses

Corneal Dystrophy

What is Corneal Dystrophy?

Corneal dystrophy is a genetic eye disease. Corneal dystrophies cause abnormal build-up of material in the layers of the cornea, which can lead to blurry vision, light sensitivity, eye pain, and even vision loss.

There are many types of corneal dystrophies, but one group of sight-threatening corneal dystrophies that AvaGen™ tests for are called TGFBI corneal dystrophies. TGFBI corneal dystrophies are a group of rare and harmful inherited eye disorders that run in families and cause changes in the cornea ranging from swelling to a buildup of abnormal material.

Why Specialize in Corneal Dystrophy?

Most corneal dystrophies are an autosomal dominant genetic disease that can result from just one abnormal gene. It only takes inheriting that gene from one parent, or a single gene mutating in the child, to be affected with corneal dystrophy.

How Do We Test?

AvaGen™ tests for the presence of anyTGFBI-gene-related corneal dystrophy variants and displays them with a reported genotype.

Identifying corneal dystrophy early allows eye care providers to offer a range of treatment options and preventive strategies for the patient.

AvaGen™ detects the following TGFBI-associated corneal dystrophies:

• Epithelial Basement Membrane

• Granular Type 1

• Granular Type 2

• Lattice Type 1

• Lattice Type IIIA

• Reis-Bucklers

• Schnyder’s-like

• Thiel-Behnke

Who is Affected? What are the Implications?

Corneal dystrophy is a rare disorder with a low prevalence rate.

The incidence of keratoconus in the UNITED STATES is 1 in 2000 people.3

Outside the U.S., corneal dystrophy prevalence varies by country:

South Korea

Granular Corneal Dystrophy type 2 affects about 1 in 870 people.8


TGFBI Corneal Dystrophy affects about 1 in 416 people.8


7. Musch DC, Niziol LM, Stein JD, Kamyar RM, Sugar A. Prevalence of corneal dystrophies in the United States: estimates from claims data. IOVS. 2011;52(9):6959-6963.

8. Chao-Shern C, Me R, DeDionisio LA, et al. Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a Chinese family. Eye (Lond). 2018;32(1):39-43.


What is Glaucoma?

Glaucoma is a hereditary eye disease that affects the optic nerve.

One effect of glaucoma is that fluids in the eye don’t drain adequately, so pressure builds up in the eye. This pressure can damage the optic nerve and the damage to the nerve can eventually lead to blindness.

Why Specialize in Glaucoma?

Glaucoma is the second leading cause of blindness globally and researchers expect an increase in the number of people affected in the coming years. With so many people affected glaucoma screening tests like AvaGen Glaucoma can help eyecare providers make better, earlier decisions for patient care.

Glaucoma can be either polygenic or monogenic, but the polygenic variants are more prevalent in the general population. Monogenic glaucoma tends to be an early-onset disease, and people who develop monogenic glaucoma in their youth may later develop polygenic glaucoma as well.

This makes our 2-in-1 genetic test for glaucoma particularly important for strategic preventive treatment AvaGen Glaucoma is expected to launch nationwide in 2023.

How Do We Test?

AvaGen Glaucoma tests for glaucoma genes, both polygenic and monogenic, using two separate testing systems and combines the results into one report.

This 2-in-1 design to our glaucoma eye test allows eye care providers to screen for a patient’s risk of developing both early-onset monogenic glaucoma and later-onset polygenic glaucoma.

Who is affected?
What are the implications?

According to the National Eye Institute, glaucoma affects 2.7 million people worldwide.1 In the United States, glaucoma disproportionately affects African American and Asian populations, but most clinical studies published to date have been conducted in Caucasian populations. Therefore, Avellino is dedicating efforts to collect data from multi-ethnic patients with glaucoma to improve the ability of the test to provide a PRS for patients of different ethnicities.


National Eye Institute. Glaucoma Data and Statistics. 2019. July 17, 2019.

Accessed December 14, 2021. and-resources/eye-health-data-and-statistics/glaucoma-data-and-statistics