Quest Diagnostics Inc : Quest Diagnostics Announces C9orf72 Genetic Test for ALS (Lou Gehrig's Disease)
04/25/2012| 04:43pm US/Eastern
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MADISON, N.J. and WORCESTER, Mass., April 25, 2012
/PRNewswire via COMTEX/ --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 2012issue
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 UniversityALS 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" (www.teamgleason.org), 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 Gleasonand 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 www.athenadiagnostics.com.
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 QuestDiagnostics.com.
Follow us at Facebook.com/QuestDiagnostics and
Twitter.com/QuestDX.
Quest, Quest Diagnostics, Athena Diagnostics and all
associated Quest Diagnostics registered or unregistered
trademarks are the property of Quest Diagnostics.
Contacts:
Wendy Bost(Media): 973-520-2800
Kathleen Valentine(Investors): 973-520-2900
SOURCE Quest Diagnostics
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