Frequently Asked

Get in-depth answers about Avellino, AvellinoCoV2, and the AvaGen genetic DNA test.

General test questions

What is AvellinoCoV2?

The Avellino SARS-CoV-2/COVID-19 Test (AvellinoCoV2) is a non-invasive, swab based test used to detect the SARS-CoV-2 virus, a strong indicator of the patient having the COVID-19 disease. A positive result generally indicates an active infection, while a negative result should not be used as the sole basis for treatment or other patient management decisions.

What are the testing specifications for AvellinoCoV2?

  • Methodology: Real-time Reverse Transcriptase (RT)- PCR
  • Specimen Collection
    • One nasopharyngeal swab and one oropharyngeal swab sample in Microbiome viral transport medium.
  • Volume
    • 1mL
  • Container
    • iSWAB Microbiome Collection Tube
  • Expected Turnaround Time
    • 1-2 days
    • Turnaround time is defined as the usual number of days from the date the swab specimen arrives in the testing facility to when the result is released to the ordering health care provider via patient report. In some cases, additional time should be allowed for confirmatory tests. Testing schedules may vary.
  • Storage Instructions
    • Store at room temperature for no longer than 72 hours.
  • Causes for Rejection
    • Samples older than 72 hours; improper labeling; gross contamination; broken or leaking transport device; collection with substances inhibitory to PCR including heparin, hemoglobin, ethanol, EDTA concentrations >0.01M

What is AvaGen?

AvaGen is an innovative diagnostic tool for eyecare and surgical practices. The test is used for determining risk, as an aid for clinical diagnosis, and as a tool prior to refractive surgery. Preemptive screening allows physicians and patients to work together to plan for healthier vision moving forward, including earlier implementation of preventive strategies.

What is the technology behind AvaGen?

After collecting the patient’s genomic DNA from a cheek swab (buccal swab) sample, a next-generation sequencing (NGS) analysis is carried out utilizing a custom panel that primarily targets the coding regions of 75 genes associated with keratoconus and the over 70 TGFBI mutations for corneal dystrophies known to be involved in the structure and function of the eye.

How common is keratoconus and corneal dystrophy in my patient population?

Keratoconus prevalence varies, but it is likely underestimated: 0.2 – 3,300 per 100,000 (depending onhospital/clinic or population-based analysis).1

  • A Netherlands study suggests 1:375, which is 5-10 times higher than previously reported2
  • An analysis of pediatric patients from Saudi Arabia showed prevalence of 1:213

Corneal dystrophy prevalence varies by country:

  • US – 1:1115 (~290,000 people)4 GCD2*
  • South Korea – 1:870 (~60,000 people)4 GCD2*
  • China – 1:416 (~3,400,000 people)4 TGFBI CD
    • *Only type ll Granular Corneal Dystrophy
    • Only Transforming growth factor beta-induced corneal dystrophy

Who is the ideal patient for AvaGen testing?

At minimum, any patient with family history, irregular topographic diagnosis, observed spots duringc slit-lamp examination, or considering a refractive procedure is a strong candidate for genetic testing for keratoconus and corneal dystrophies.5

AvaGen may be beneficial for patients:

  • Who are considering vision correction surgery, since laser vision correction has been shown to accelerate the formation of protein deposits
  • Who are interested in wearing contact lenses, as up to 80% of contact lens–wearing patients experience a lens-related eye injury6
  • With suspicious spots (protein deposits) on their cornea
  • With a family history of corneal spots or corneal dystrophy, or who have had a corneal transplant for unknown reasons
  • With a family history of keratoconus
  • Who are unsure of their family health history
  • Whose vision has grown continually worse over the years
  • Who have never had a corneal wound or penetrating eye injury

What is the ideal patient age for testing?

Consider testing patients in the age range of 13-30 years that may be fitting for contact lenses, have a family history, are considering refractive procedures, or have overall environmental factors that may cause progression.

How is the AvaGen test better than a topographic diagnosis? Does AvaGen replace the need for tomography, topography, or other traditional evaluation methods?

AvaGen provides an early method for determining an individual’s genetic pre-disposition for keratoconus and TGFBI corneal dystrophies. Topography is not typically performed on every patient, and one of the key benefits to genetic testing is being able to catch risk or disease early before the disease progresses, which is when the disease would start to be seen on a topography.

If one of my patients tests positive for keratoconus or corneal dystrophy, how important is it to have other family members tested?

Clinicians should inform their patients that keratoconus and corneal dystrophies are inherited conditions, so if they test positive for risk or diagnosis, there’s a good chance that others in the family will have or develop the same condition. Patients should inform their other family members and suggest they speak to their own physicians or eyecare professionals about getting tested.

How does AvaGen integrate into or improve my medical recommendations for my patients?

AvaGen provides in-depth results for healthcare providers up to years earlier than before, allowing for preventive measures and strategies to be put in place sooner, or in some cases, for treatment to begin earlier. Used as part of a comprehensive diagnosis and treatment strategy, AvaGen provides an important key to potentially improving patient outcomes.

What other support services does Avellino Labs provide to my practice?

Avellino customer service and your local sales representatives are here to answer your questions or connect you to the person best able to help you with your needs. They are prepared to answer questions about the test, administration, technical resources, and more.

If you are having trouble getting in contact with your account representative in your area, Customer service representatives are available from 9:00 AM to 5:00 PM (PT) Monday- Friday (excluding holidays). Contact us or call.

Avellino provides genetic counselors to all physicians and patients who test positive for a risk of keratoconus or a corneal dystrophy. More details about this service can be provided by your account representative.

Test results

How and when are the AvaGen test results delivered?

The ordering physician will have access, via your mobile or tablet, to our secure physician portal, avagenpro.com, where each patient report will be uploaded for review and printing for the patient file. In rare circumstances when a clinic does not have internet access, Avellino Labs can fax patient test results to your clinic office.

Results will be ready within 5 to 14 days following receipt at Avellino Labs, depending upon test volumes and if confirmation testing is required.

Test reports are accessible via the secure portal, which is only accessible to the physician. Reports contain an explanation and key takeaways for the patient.

What is in the AvaGen test report and what are the key takeaways for my patient?

The test report covers screened rare variants for keratoconus and TGFBI corneal dystrophies. Key takeaways for your patients include receiving a clear answer on risk of developing keratoconus and/or the presence of corneal dystrophy.



  • Keratoconus variants are displayed with a risk score reference bar, from 0 to 100, using a
    green-yellow-red scale. Each gene receives its own numerical risk score and a determination of very
    low risk to very high risk.
  • Corneal dystrophy variants are displayed with a reported phenotype. If listed, the patient is
    positive for that particular corneal dystrophy phenotype.

The test report also lists all genes tested, explains why next-generation sequencing is utilized, and includes indication information and a glossary. See our sample patient report.

How do I explain the AvaGen test results to my patients?

Avellino Labs sends the patient test report to the ordering physician. Our company provides genetic counseling support service (at no charge) to assist the doctor with report interpretation. In addition, this genetic counseling service is available to patients (at no charge) to help them understand the report findings. More details about this service can be found in the physician portal, avagenpro.com.

What does a risk assessment for keratoconus mean for my patients?

The next-generation sequencing panel examines the coding regions of 75 genes associated with keratoconus. If a patient tests positive for a variant of one of these genes, that variant is provided a score from 0 to 100 on a green, yellow, and red scale. Based on the number of variants and the associated risk scores, a physician can use this information to implement preventative strategies, healthier eyecare practices, or initiate treatment.

Is gene therapy already available to stop and/or reverse the related pathologies of this DNA keratoconus test?

There is currently no gene therapy available to reverse the related pathologies. However, there are several options to slow down the progression of these diseases if you are aware of pre-disposition at an early age or prior to disease progression. Avellino is working on a gene therapy for TGFBI corneal dystrophies that is progressing to the trial stage in the near future.

Are genetic counselors available?

Yes, Avellino Labs will provide genetic counselors at no cost to either the physician or the patient for all positive or at-risk test results. More details about this service can be provided by your account representative or contact us.

How can I learn more about Avellino’s patient privacy practices?

Learn more about our genetic data and usage policy here.


How do I order the AvaGen test?

Your local representative can set up an account for you and kits will be shipped directly to your clinic or practice. There may also be a local distributor in your area that can help facilitate the account for you. Not sure who your local representative or distributor is? Contact us.

How do I administer the AvaGen test?

The physician will order the AvaGen test package, which includes instructions for collecting the sample from the patient.Download the AvaGen Instructions for Use brochure.Or, access testing instructions and other AvaGen materials here.

How can I eliminate the risk of sample rejection and ensure that the patient sample is accurately collected?

Detailed sample collection instructions are available for review in the Instructions for Use brochure. Following these procedures assures a successful sample collection and eliminates risk of sample rejection by Avellino’s CLIA-certified lab.

How do I store the sample swabs for the AvaGen test, and what is the sample stability?

Store at room temperature. DNA samples will be stable for 3 months at room temperature. If longer-term sample storage is needed, the refrigeration or freezing of the sample significantly increases DNA stability. Stability data findings will be available in 2020.

How do I ship the cheek swab samples for the AvaGen to be analyzed?

The sample will be sent to Avellino’s lab using the provided prepaid USPS mailer. The AvaGen testing packaging also comes with an information card on how to administer and ship the test for results.

How much does the AvaGen test cost?

Prices may vary. Contact your account representative for specifics.

Does AvaGen qualify for medical reimbursement under a CPT code?

The AvaGen test does not currently have a specific CPT code for keratoconus. However, there are codes available for NGS tests performed in a CLIA-certified lab: 81445, 81450, and 81455. The CPT code for Avellino Labs’ Universal Test (for 5 TGFBI Corneal Dystrophies) is 81333.Is there a question that you need answered that is not listed here? Please ask us directly. Contact Avellino

TRF Questions

What is genetic testing?

Genetic testing is an important step in diagnosing diseases, such as keratoconus or corneal dystrophies. When your healthcare provider suspects that you may have a condition or could develop one in the future that has a genetic basis, it is important to get tested so you can confirm a diagnosis or risk factors and take appropriate steps.

How does the AvaGen test work?

The AvaGen genetic test analyzes your DNA – the chemical building blocks of genes – to look for changes (mutations) that can cause certain eye-related diseases. If your test indicates a high risk for developing keratoconus or confirms the presence of a change in a gene associated with the development of corneal dystrophy, then you and your healthcare provider may consider creating a management or treatment plan. It is important to remember that even if your test indicates a low risk for developing keratoconus or there are no gene findings that would indicate the presence of corneal dystrophy, this does not mean it is still not possible to develop these conditions. A negative test must be evaluated in the context of clinical findings as well as personal and family history. New information may become available in the future that could influence the interpretation of these results. Your healthcare provider may advise/request professional genetic counseling based on the results of your tests. In this case, Avellino will facilitate genetic counseling at no additional charge to you or your healthcare provider. For more information about the AvaGen genetic test, talk to your healthcare provider or refer to www.avellino.com.

How will I receive my test results?

Avellino’s clinical reports are released to the healthcare provider(s) listed on the AvaGen The Genetic Eye Test Requisition Form (“TRF”) (“Ordering Physician”). Your clinical report is available to you from your Ordering Physician or upon your written request in accordance with applicable law. Speak with your Ordering Physician to follow up on the results of your genetic eye test.

Who should I speak to about my test and results?

You should consult with your Ordering Physician or other healthcare provider before consenting to this test – they can help answer your questions you have about this test and genetic testing. You should discuss your test results with your Ordering Physician or other healthcare provider, and/or a genetic counselor.

Will my test results ever change?

As knowledge of genetic information improves over time, new information may become available that potentially could impact the interpretation of your test results. Your healthcare provider may be notified of clinically significant changes to the interpretation of your genetic eye test and may over time receive updated reports containing previously unreported variants in genes that were not associated with disease at the initial time of testing and/or updated variant classifications.

Who will have access to my sample and genetic information?

You have the right to confidential treatment of your sample and genetic information in accordance with applicable law. Your Ordering Physician and his or her practice/clinic personnel may have access to your sample during collection. Avellino laboratory personnel will receive your sample. They and Avellino’s genetic counselor will have access to your test results and other genetic information obtained from your sample. Avellino will securely store this information in its systems and will send your Ordering Physician your test results. Your genetic information will be available to you upon request to assist with other health conditions in the future in accordance with applicable law. Avellino may store, use, and disclose your sample and genetic information for internal quality assurance or improvement, other operational activities, internal validation studies, genetic or other medical research, or other research or development of any current or future products that Avellino offers, or in publications authored or co-authored by Avellino. Avellino will de-identify or anonymize the sample or genetic information before storing, using, or disclosing it to the extent required by applicable laws, and your protected health information or other personally identifiable information will not be included in any publications. Third parties that may receive your sample or genetic information may include non-profit, commercial, or governmental entities such as universities, healthcare providers, research institutions, genetic testing companies, or pharmaceutical or medical device companies. Learn more about Avellino’s genetic data usage and privacy practices below or at https://avellinoprod.wpengine.com/en/genetic-data-usage/ and https://avellinoprod.wpengine.com/en/privacy/.

What are the benefits of the test?

Benefits of the test may include: (i) having more information to improve decision-making about your healthcare, including creating a management or treatment plan if the test confirms a risk for developing keratoconus or the presence of corneal dystrophy; (ii) having knowledge that could qualify you to enroll in research studies, which could help doctors better understand how to treat certain diseases; and (iii) having knowledge that may provide important health information for members of your family.

What are the risks of the test?

The physical risks of the test are minimal and may include mild discomfort. The decision to have a genetic test, however, may induce anxiety and you may experience certain emotions upon learning that you do or do not carry a gene change for a certain condition. In addition, while there are laws that prohibit use of genetic information for certain insurance coverage and employment decisions, genetic information is sensitive and there is a chance your test results could have a negative effect on you or your family if the results are inappropriately used or shared. If the genetic information or genetic test results become known to others, there may be potential consequences with regards to insurability, employability, or social discrimination. Is there a question that you need answered that is not listed here? Please ask us directly. Contact Avellino


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

2. Godefrooji 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.

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

4. 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.

5. Data on file, Avellino, Inc.

6. Cope JR, Collier SA, Nethercut H, Jones JM, Yates K, Yoder JS. Risk behaviors for contact lens–related eye infections among adults and adolescents—United States, 2016. MMWR Morb Mortal Wkly Rep. 2017:18;66(32)841-845.