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Quest Diagnostics Announces C9orf72 Genetic Test for ALS (Lou Gehrig's Disease)

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 advocacy organization "Team Gleason" (, which was formed by former New Orleans Saints football player Steve Gleason.  Gleason, who was diagnosed with ALS in January 2011, will make appearances at the Athena exhibit booth #837 on Tuesday, April 24, and Thursday, April 26, as part of a fundraising campaign for the organization. 

"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."

"We applaud Steve Gleason and Team Gleason for generating public awareness of ALS and the need for improved medical advances for this disease," said Weisberg.

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.  The Company recommends genetic counseling for patients and their family before any genetic test is ordered.

About Athena Diagnostics
Founded in 1988, Athena Diagnostics is the leading provider of advanced diagnostic testing services for neurological disorders, including dementia, epilepsy, developmental disorders, motor neuron disorders, and neuromuscular disorders. Based in Worcester, Massachusetts, Athena provides the most comprehensive specialty test menu through more than 350 tests in the areas of neurology, endocrinology, and nephrology. Quest Diagnostics acquired Athena from Thermo Fisher Scientific in April 2011. For more information, visit

About Quest Diagnostics
Quest Diagnostics is the world's leading provider of diagnostic testing, information and services that patients and doctors need to make better healthcare decisions. The company offers the broadest access to diagnostic testing services through its network of laboratories and patient service centers, and provides interpretive consultation through its extensive medical and scientific staff. Quest Diagnostics is a pioneer in developing innovative diagnostic tests and advanced healthcare information technology solutions that help improve patient care. Additional company information is available at Follow us at and

Quest, Quest Diagnostics, Athena Diagnostics and all associated Quest Diagnostics registered or unregistered trademarks are the property of Quest Diagnostics.

Wendy Bost (Media): 973-520-2800
Kathleen Valentine (Investors): 973-520-2900

SOURCE Quest Diagnostics
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