We are pausing commercial AvaGen testing services and working on partnerships to continue to provide patient testing services in the future.
Please retain existing AvaGen kits – we will provide notice as developments arise.
Questions? Reach out to or call (650) 396-3741.


The groundbreaking AvaGen™, The Genetic Eye Test, leverages powerful genetic information to provide eye care professionals with an early and accurate understanding of keratoconus genetic risk, and the presence of TGFBI gene-related corneal dystrophies.

By delivering these insights in both asymptomatic and suspected patients, AvaGen™ enables new opportunities for proactive sight-saving interventions and confident surgical decisions.

Next Generation Sequencing (NGS) AvaGen Delivers:

  • A new level of targeted and personalized eye care
  • Objective polygenic keratoconus risk score data based on multiple gene clusters that have a high correlation with keratoconus to inform early and accurate management decisions
  • Definitive diagnosis of specific corneal dystrophies based on monogenic data from the TGFBI gene and 70 TGFBI gene variants providing YES/NO diagnosis of corneal dystrophies including:
    • Epithelial Basement Membrane
    • Granular Type 1
    • Granular Type 2 (Avellino)
    • Lattice Type 1
    • Lattice Type IIIA
    • Reis-Bucklers
    • Schnyder’s-like
    • Thiel-Behnke

Easy to Understand Reporting

Every AvaGen test report is organized into actionable sections plus other supporting information:

  1.  Patient and Order Information
  2.  Keratoconus risk assessment
    • Polygenic risk score, categorized as low, medium, or high risk of keratoconus
    • Relevant variant analysis
    • Detailed variant interpretation
  3.  Corneal dystrophy detection
    • YES/NO diagnosis of corneal dystrophies based on monogenic data from TGFBI gene
    • Relevant variant analysis
    • Detailed variant interpretation

Genetic Counseling

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

  • Counseling is available at no additional cost for patients following their test results
  • Genetic counseling gives you information about how genetic conditions might affect you or your family and may be used to determine how likely it is that you or your family member has a genetic condition. Genetic counseling after testing can help you better understand your test results and treatment options, help you deal with emotional concerns, and refer you to other healthcare providers, advocacy, or support groups.

Testing and Results


Collect samples by swabbing inside the cheek (buccal)


Ship sample to Avellino’s CLIA-certified lab for analysis


AvaGen report uploaded to our secure portal for practice to access


Optional session with a genetic counselor