PRODUCT
Avellino Lab
Universal Test
100% Accurate Test that complements the ophthalmic instrumental examination
Sensitivity, Specificity, Reliability: 100%
Why Perform a Corneal Dystrophy Genetic Test
Before Refractive Surgery?
Corneal Dystrophy Genetic Mutations
Patients with corneal dystrophy genetic mutations undergoing corneal cutting surgeries like LASIK, LASEK, and SMILE LASIK may experience rapid development of corneal opacity (accumulation of specific light gray proteins in the cornea), leading to a swift loss of vision. Therefore, it is crucial to check in advance whether a patient carries corneal dystrophy genetic mutation through genetic testing.
100% Accurate Test that complements the ophthalmic instrumental examination
Traditional ophthalmic equipment-based tests have physical limitations in detecting corneal dystrophy genetic mutations; hence, only through genetic testing can a 100% accurate diagnosis be achieved.
Preventive Diagnosis
As there is no known cure for corneal dystrophy, early and rapid diagnosis is crucial to delay or prevent the onset of the disease. Genetic testing provides patients with precise and early diagnoses, allowing for proactive measures.
Avellino Lab Universal Test
has protected 2,106 individuals
carrying corneal dystrophy genes from vision loss.
Why Avellino Lab Universal Test is Conducted on Patients
Before Refractive Surgery in Ophthalmology?
Early Intervention Through Pre-Diagnosis
allowing for early response to the disease.
Asymptomatic Patients
no visible symptoms or have not yet developed the disease.
These can be detected with 100% accuracy through genetic testing.
Patients Without Family History
Features of Avellino Lab Universal Test
Testing Five Types of
TGFBI Gene Mutations At Once
Testing for five types of TGFBI gene mutations
associated with corneal dystrophy(R555W, R124H,
R124C, R124L, and R555Q) at once
Quick Genetic Testing Turnaround Time
Prompt results obtained
after the arrival of the testing sample
Accurate Results –
Type/Presence of Corneal Dystrophy
100% confirmation of the
type/presence of corneal dystrophy
Obtained CLIA Certificate in U.S
Avellino obtained CLIA(Clinical Laboratory Improvement
Amendment) certification as the world’s first genetic
testing company specializing in corneal dystrophy
TGFBI (Transforming Growth Factor-Beta Induced) Gene Mutation Test
Corneal dystrophies, characterized by progressive loss of corneal transparency due to the accumulation of deposits within the cornea, are a group of disorders with diverse clinical, histopathological, and genetic aspects, making clinical diagnosis extremely challenging. These are predominantly autosomal dominant inherited disorders, commonly appearing in childhood or adolescence, leading to progressive vision loss.
According to the IC3D classification, diseases such as △Type 1 and △Type 2 Granular Corneal Dystrophy, △Lattice Corneal Dystrophy Type 1, △Reis-Bücklers Corneal Dystrophy, and △Thiel-Behnke Corneal Dystrophy are caused by mutations in the TGFBI gene, which expresses the keratoepithelin protein.
The most frequent mutations causing these conditions are △R555W, △R124H, △R124C, △R124L, and △R555Q. Initial screening focuses on base sequence mutations in exon four and exon 12, which include the arginine residues at codons 124 and 555.
* Exon: a segment of mRNA encoding part of a protein
Genetic Testing Process
Ophthalmology consultation followed by consent form and referral form completion
DNA sample collection
(oral epithelial cells – scraped ten times each from the left and right cheek)
Shipping DNA samples to the laboratory
Corneal dystrophy mutation genetic testing in the lab
Test result review
