GeneDx launches new genetic test to accurately diagnose rare diseases

Oct 13 2011

At the joint conference of the American Society of Human Genetics/International Congress on Human Genetics in Montreal on October 12, GeneDx, one of the foremost genetics laboratories in the world and a subsidiary of Bio-Reference Laboratories, Inc. (NASDAQ: BRLI), is announcing a first-of-its-kind test that will enable physicians and patients to more accurately identify the genetic cause of rare diseases.

This genetic test is useful when a patient has gone through all the routine diagnostic tests and does not yet have a molecular genetic diagnosis. Based on the test results, physicians will be able to make a specific diagnosis, provide the patient with a specific disease surveillance, and develop a program for prevention and management of the condition. In addition, the patient's family members also can get tested for the specific mutation identified in the patient in order to assess both their risk of disease and of having children with the same condition. GeneDx will offer XomeDx ^TM, an exome sequencing test which will be clinically appropriate when a diagnosis cannot be made by using other more targeted methods.

"GeneDx, our world class clinical diagnostic laboratory brings extensive breadth and depth to the analysis and interpretation of the significance of molecular findings seen in rare genetic disorders, with the experience to interpret the entire spectrum of genetic variation," said Marc Grodman, MD, President and CEO of Bio-Reference Laboratories. "This new test is another illustration of how our superb staff of geneticists apply breakthroughs in genomic testing to assist physicians in identifying the underlying molecular basis of rare inherited diseases. It will enable us to analyze genetic material in a way never before possible." With more than 20 Board-certified geneticists whose clinical and molecular specialties range from dermatology and immunology to ophthalmology and cardiology, GeneDx is extremely well positioned to provide comprehensive analysis and interpretation of genetic variations that cause rare inherited disorders.

"Having the capability to examine the entire spectrum of genetic variants, including mitochondrial, nuclear and copy-number variation, is critical," said Sherri Bale, PhD, Managing Director, GeneDx "However, if you don't have the expertise to analyze and interpret the molecular data, you can't make an accurate diagnosis. As part of our test, we will use our clinical expertise and apply our state-of-the-art technology and analysis of the family data to identify the genetic defect to make an accurate diagnosis."

GeneDx will provide the XomeDx test in its CLIA-certified laboratory (through the U.S. Government's Clinical Laboratory Improvement Amendment - CLIA - program). The report that will be issued will be simple to understand for the clinician, patient and their family.

XomeDx will be available from GeneDx beginning January 3, 2012.