ABCA4 Gene Test

What is the ABCA4 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 ABCA4 gene. It affects the way that Vitamin A is used in the development and protection of the retina and its sensitivity to light. Mutations in the ABCA4 gene can result in a buildup of a toxic vitamin A derivative, which collects as yellow-white deposits called lipofuscin, resulting in vision loss. Recent studies now show that dietary and supplemental Vitamin A promotes the additional accumulation of lipofuscin in ABCA4 mutated individuals, leading to accelerated visual loss.

ABCA4 Gene Mutation Test

Many retinal physicians and research institutes now recommend minimizing Vitamin A intake for ABCA4 mutated individuals and replacing it with other eyecare vitamins. Our test will look for ABCA4 genetic mutations, and assess your individual risk for taking Vitamin A supplements versus other eyecare supplements, such as astaxanthin and lutein.

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 mutations in the ABCA4 gene.

Results from our genetic lab will be available within 1 week. The report will state whether you have a normal or functionally mutated ABCA4 gene and guide your eye-care health provider to recommend supplement treatment.