New AvaGen
genetic test

AvaGen is a new genetic test that identifies the risk of developing keratoconus and the presence of corneal dystrophies.

With AvaGen, physicians now have access to a new tool to provide a more precise medical consultation to their patients, especially with at-risk patients, such as those with a family history of genetic eye disease. The ultimate goal for AvaGen is to help provide patients with a lifetime of healthy eye and vision care.

AvaGen test overview

  • First commercially available test of its kind
  • Non-invasive cheek swab test that is easily administered in the office
  • Test results that provide actionable information and allow earlier preventive/mitigative strategies to be implemented for patients
  • Examines over 1,000 variants across 75 genes for keratoconus and over 70 TGFBI mutations of the TGFBI gene for corneal dystrophies
Looking for the existing Avellino Universal test?

Visit Universal test or Resource summary for practice forms.

Interpreting test results

AvaGen is designed to be easy to interpret. Materials are also available to help explain test results to your patients.

  • For keratoconus, AvaGen uses a simple 0 to100, green-yellow-red scale to convey a relative risk score for each variant, based on our research and study populations
  • For corneal dystrophies, a simple positive or negative result is displayed
  • Test results are simple to understand and easy to explain to your patients
  • Test results allow physicians to create an individualized treatment plan for their patients

Avellino also provides the services of genetic counselors to assist physicians and patients with added expert support.

  • Counseling is available for those with at-risk or positive test results
  • Counseling offers the potential for more effective treatment and monitoring programs

Review a typical sample patient report.

Explore AvaGen methodology

Get test support, forms, and materials

Explore AvaGen methodology

A next-generation sequencing platform uncovers rare variants associated with keratoconus

Keratoconus, a corneal ectatic disorder, is a complex disease characterized by genetic heterogeneity requiring a comprehensive sequencing method able to detect rare DNA variants. Here, we present a representative case study where a targeted next-generation sequencing (NGS) platform was used to uncover rare variants.


Whole exome sequencing (WES) was carried out on a sample cohort of 218 cases and 68 controls. The WES results were used to design a custom NGS panel. 119 case samples, including the case study described here and 79 controls, were sequenced with the targeted NGS panel. DNA was extracted from buccal swab samples and functionalized libraries were constructed prior to all sequencing. Variant call format files (VCFs) were filtered, and a risk score based on prediction software tools was developed to predict the pathogenicity of suspect variants. The case study presented here was clinically diagnosed as keratoconus with secondary amyloid deposits.


Five rare, missense single nucleotide variants found in LOX, LTBP2, MAP3K- 19, and ZNF469 were uncovered in the subject’s DNA. Variants in the LTBP2 and MAP3K-19 genes are reported here for the first time in association with keratoconus. Variations known to result in corneal dystrophic amyloid deposition were not present.


NGS can identify a range of genetic variants for keratoconus. The variants uncovered in LTBP2 and MAP3K-19 strengthen the evidence for linkage of keratoconus to chromosomal loci 14q24.3 and 2q21.3. Providing physicians with a test to determine genetic factors can help assess the risk of developing keratoconus before symptoms appear.

Check back soon for additional data on variant confirmations in relation to their individual impacts to the disease.

Get test support, practice forms, and educational materials

AvaGen will be returning to the U.S. in 2021. To support the test, Avellino has created easy-to-use forms and materials for your practice, including patient support materials. We want to make the test process as seamless as possible.

For additional materials, visit our Resource Summary page.



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