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DNA Analysis Identifies People with Fabry Disease

By Labmedica staff writers
Posted on 31 Jul 2008
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A genetic screening test has been introduced which aims at identifying high-risk individuals who have a family history of stroke, cardiovascular, or kidney disease.

Predictive genetic testing or genetic profiling panels access risk factors that help determine the probability that an asymptomatic (healthy) individual with or without a family history of a certain disease might develop a disease.

The new screening test, which is called StrokeScan, analyzes genes that have been associated with the alpha-galactosidase a gene, which is responsible for Fabry disease. Fabry disease is a genetic disorder that results in an enzyme deficiency that commonly causes death before age 55 by way of stroke, heart attack, or kidney failure.

Originally thought to occur in only one in 50,000 people, new scientific evidence based on newborn screening suggests that it may be over ten times more common than previously believed. Simple biochemical tests currently used to diagnose Fabry miss more than 70% of women and 15% of men having the disease. The average time to arrive at a medical diagnosis after the onset of symptoms presently takes over 10 years.

CyGene Laboratories' (Coral Springs, FL, USA) StrokeScan is based on the expertise and intellectual properties that CyGene exclusively licensed from Prof. Dr. Arndt Rolfs of the University of Rostock, Germany. Prof. Rolfs is one of the leading authorities on Fabry disease and heads the largest global study on stroke in young Fabry patients.

CyGene Laboratories, Inc., is a biotechnology company focused on introducing genetic predisposition and diagnostic testing into the general population. The company markets six DNA predictive genetic test panels in accordance with its business model, sold directly to consumers, through physicians, and other healthcare practitioners.


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