Get in-depth answers about Avellino and the AvaGen genetic DNA test.
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.
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.
Keratoconus prevalence varies, but it is likely underestimated: 0.2 – 3,300 per 100,000 (depending on
hospital/clinic or population-based analysis).1
Corneal dystrophy prevalence varies by country:
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:
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
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.
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.
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.
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
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
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.
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.
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
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.
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.
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.
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.
Learn more about our genetic data and usage policy here.
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
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.
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
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.
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.
Prices may vary. Contact your account representative for specifics.
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
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
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.