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Genetic Test for Major Forms of Congenital Color Blindness Launched

By LabMedica International staff writers
Posted on 19 Jun 2012
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A military grade genetic test for all major forms of congenital color blindness has been launched.

The test, marketed under the Eyedox brand, involves a painless finger prick to obtain a blood sample that is specifically analyzed using gene sequencing technology for color genes, which are expressed in the eye but present in all cells. This gives both a precise identification and an accurate classification of any inherited color vision deficiency along with a precise severity rating.

It is the first totally objective color-vision test that can consistently separate colorblind individuals from those with normal color vision and accurately classify color vision deficiencies. It offers uniform standards in the workplace and meets the color vision testing requirements of military and government organizations grappling with badly outdated testing methods.

The test was launched at the Aerospace Medical Association annual event May 13-15, 2012, in Atlanta, Georgia. The genetic test, and much of what is known about color vision itself, represents decades of research by the husband and wife team of Jay and Maureen Neitz, PhD, who are professors of Ophthalmology, and Biological Structure at the University of Washington (Seattle, WA, USA). A significant improvement over conventional color vision tests is the ability of the genetic test to rate the severity of the highly variable condition on a scale of 1 to 100.

The test was developed by Genevolve Vision Diagnostics, Inc. (Albuquerque, NM, USA) a life sciences company, which researches, designs, and commercializes noninvasive molecular diagnostic assays and treatments for clinical applications for the color vision industry.

“The new military grade test is near perfect at separating color normals from color defectives which has proved challenging with conventional testing methods,” said Genevolve president Matt Lemelin.

Congenital or inherited colorblindness affects the photoreceptors that absorb light in the red-green visual spectrum. Color vision deficiency is the most common genetic disorder in humans. The disorder is most often inherited as the result of mutations on the X chromosome and therefore is predominantly present in the male population. It has been estimated that 1 out of 8 males and 1 out of 200 females possess some form of inherited color vision deficiency. Studies indicate there are 13.5 million color vision deficients in the United States and more than 200 million worldwide.

The test has been designed to meet the needs of the Federal Aviation Administration and the US Air Force as the departments and others have been critical of the failure of color vision tests currently on the market meeting their requirements. Highlighting testing failures and prompting the National Travel Safety Bureau to recommend new color vision testing standards was the 1997 Amtrak train disaster blamed on a colorblind engineer that misread colored signals and the 2002 Fed Ex plane crash labeling the first officer’s undetected colorblindness as a contributing factor.

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