General test questions
What is AvellinoCoV2?
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.
- 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?
What is the technology behind AvaGen?
How common is keratoconus and corneal dystrophy in my patient population?
- 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?
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?
How is the AvaGen test better than a topographic diagnosis? Does AvaGen replace the need for tomography, topography, or other traditional evaluation methods?
If one of my patients tests positive for keratoconus or corneal dystrophy, how important is it to have other family members tested?
How does AvaGen integrate into or improve my medical recommendations for my patients?
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.
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?
How do I administer the AvaGen test?
How can I eliminate the risk of sample rejection and ensure that the patient sample is accurately collected?
How do I store the sample swabs for the AvaGen test, and what is the sample stability?
How do I ship the cheek swab samples for the AvaGen to be analyzed?
How much does the AvaGen test cost?
Does AvaGen qualify for medical reimbursement under a CPT code?
What is genetic testing?
How does the AvaGen test work?
How will I receive my test results?
Who should I speak to about my test and results?
Will my test results ever change?
Who will have access to my sample and genetic information?
What are the benefits of the test?
What are the risks of the test?
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.