The test is the first of its kind to detect whether the patient has the genetic mutation associated with the disease. The hexanucleotide repeat expansion in the C9orf72 gene is found in up to 39 percent of people who have inherited the disease and up to 8 percent of people with no known family history for the malady, according to an article in the British medical journal “The Lancet” published this month.
The test will be shown at the American Academy of Neurology annual meeting in New Orleans this week
Dr. Richard Bedlack, the director of Duke University ALS Clinic, said preliminary research suggested that the genetic mutation is the most common identifiable cause of ALS in patients regardless of whether they have a family history of the disease, according to a company statement.
To offset the price reduction in mainstream laboratory tests, companies like Quest are trying to benefit from research advances to develop more complex genetic testing, frequently for rare diseases, which can command higher prices.
The Madison, New Jersey-based test provider acquired its Massachusetts-based Athena Diagnostics neurological division in April 2011 from Thermo Fischer Scientific.
Lou Gehrig’s disease affects an estimated 30,000 people in the United States, according to the Centers for Disease Control. It is a degenerative disease in which the nerve cells in certain parts of the brain and spinal cord slowly die.