Frequently asked questions

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

General test questions
Test results
Logistics

General test questions

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 on hospital/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 during 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.

Logistics

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

References

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.

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