Quest Diagnostics Announces C9orf72 Genetic Test for ALS

The company's Athena Diagnostics business unit unveiled the new test at the American Academy of Neurology Annual Meeting this week in New Orleans.

Quest Diagnostics, 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.

“Since the identification of the expanded repeat in C9orf72 linked to ALS late last year, the pace of discovery and focus from researchers and clinicians worldwide is unprecedented for the field of ALS,” said ALS Association Chief Scientist Lucie Bruijn, Ph.D.  “Having a diagnostic for this mutation is very important; however, there is still a great deal to be understood about how this mutation leads to ALS and FTD and the importance of repeat length and the likelihood of developing ALS if a person has the abnormally expanded repeats in C90rf72.  We encourage those interested in testing for this mutation to seek advice from their neurologist.”

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.

To find locations where testing will be conducted, visit http://www.ncbi.nlm.nih.gov/gtr/tests/?term=C1862937[DISCUI].