XRCC7 Gene Test

What is the XRCC7 gene?

Our genetic understanding of inherited retinal degenerative diseases has greatly increased with the identification of the many genes involved in these diseases and their impact on disease progression, especially with regards to the use of specific supplements.  

One of these genes is the XRCC7 gene.  

Epidemiologic evidence indicates a relationship between severity of sunlight, short wavelength ultraviolet radiation and blue light exposure and increased risk of ARMD induced by increased oxidative stress to the retinal pigment epithelium (RPE). The stress also affects the DNA of RPE cells, which promotes genome instability in these cells. Therefore, individuals with impaired DNA repair are more susceptible to ARMD.

The XRCC7 gene (MIM: 600899) encodes the catalytic subunit of a nuclear DNA-dependent serine/threonine protein kinase (DNA-PK). As the catalytic subunit of the DNA-PK complex, XRCC7 aids in the recognition and repair of DNA double-strand breaks. 

XRCC7 Gene Mutation Test

The XRCC7 gene test will determine if the patient has XRCC7 G6721T polymorphism (TT genotype) and hence have an increased risk for developing ARMD compared to the normal group (GG genotype),  especially in outdoor-working or extended blue-light exposed (computer monitors/cell phones) individuals. 

The Genetic Testing Process

We require only a simple cheek swab, done with our sterile brush, to gather enough cells for the required genomic analysis.  We will then  carry out an​ ​analysis to detect the specific mutation in the XRCC7 gene.

Results from our genetic lab will be available within 1 week. The report will state whether you have a normal or functionally mutated XTCC7 gene and guide your eye-care health provider to recommend the correct lenses and supplement treatment.