MADISON, N.J. and WORCESTER, Mass., April 25, 2012 /PRNewswire/ -- Quest Diagnostics (NYSE: DGX), the world's leading provider of diagnostic testing, information and services, today announced a new genetic testing service from its Athena Diagnostics business unit, a leader in neurology diagnostics, for amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease.
It is the first clinically available testing service for detecting hexanucleotide repeat expansion in the C9orf72 gene. Research published in the April 2012 issue of The Lancet found that this C9orf72 mutation was present in up to 39% of familial (inherited) ALS cases examined, and between 4-8% in sporadic (no known family history) cases, in a multi-national study population. The test is offered to aid in the diagnosis of familial and sporadic ALS.
"C9orf72 may turn out to be one of the most important discoveries in the history of ALS genetic research," said Richard Bedlack, M.D, director of the Duke University ALS Clinic. "Preliminary work suggests that this is the most common identifiable cause for ALS in patients with or without a family history of the disease."
ALS is a neurodegenerative disorder that causes progressive muscle weakness, leading to difficulty walking, breathing, and speaking, and eventually death. Onset is usually between the ages of 40 and 60.
In addition, research suggests the hexanucleotide repeat expansion of the C9orf72 gene is also associated with familial and sporadic Frontotemporal dementia (FTD), the second most common form of early-onset dementia after Alzheimer's disease.
Athena Diagnostics is unveiling the new testing service at the American Academy of Neurology (AAN) Annual Meeting in New Orleans, April 21-April 28. At the meeting, Athena will collaborate with the ALS advoca
|SOURCE Quest Diagnostics|
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