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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 inherited eye disease.
AvaGen may be beneficial for patients:
- With a family history of keratoconus
- With a family history of corneal disorders or corneal dystrophy, or who have had a corneal transplant for unknown reasons
- 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 injury1
- With suspicious spots (protein deposits) on their cornea
- 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
- 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.
Topography is not typically performed on every patient, and one of the key benefits to genetic testing for inherited eye disease 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. AvaGen is a precision health solution that provides an early method for determining an individual’s keratoconus genetic predisposition and TGFBI corneal dystrophy.
The test report covers screened rare variants for keratoconus and TGFBI corneal dystrophies. Key takeaways include receiving a direct answer on risk of developing keratoconus and/or the presence of corneal dystrophy. A physician can use this information to implement preventive strategies, promote healthier eye care practices, or initiate treatment.
- 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 low, moderate, or 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 (NGS) analysis is utilized, and includes indication information and a glossary. See our sample patient reports (link to sample +/- patient reports).
Yes, Avellino will provide genetic counselors at no cost to either the physician or the patient following test results. More details about this service can be provided by your account representative or Customer Service.
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 corneal dystrophy or keratoconus genetic predisposition at an early age or prior to disease progression.
Learn more about our genetic data and usage policy here.
The ordering physician will have access, via mobile or tablet, to our secure physician portal, avageneye.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 the 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 of keratoconus genetic predisposition, corneal dystrophy, and key takeaways for the patient.
Contact your account representative for pricing.
The AvaGen test does not currently have a specific CPT code for keratoconus. However, there are codes available for Next-Generation Sequencing (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.