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Quest Diagnostics Announces C9orf72 Genetic Test for ALS (Lou Gehrig's Disease)
Posted on:
April 27, 2012
Quest Diagnostics, a leading provider of diagnostic testing, information and services, announced yesterday 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.
"The diagnosis of ALS can take up to a year, and many patients are initially misdiagnosed with another condition," said Jeff Weisberg, vice president and general manager for Athena Diagnostics. "We believe C9orf72 testing has the potential to significantly enhance the quality and speed of diagnosis for many patients under evaluation for this disorder."
The C9orf72 testing service will be available to clinicians for ALS and FTD as a standalone offering and in multi-gene evaluations on April 30. Athena Diagnostics now offers genetic testing services for identifying eight other genes associated with ALS. Together, these genes account for up to 70% of familial ALS.
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