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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 Di...agnostics 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."