Athena Diagnostics (Worcester, Mass.), a subsidiary firm of Quest Diagnostics, has introduced a panel of genetic tests to detect a wide array of difficult-to-diagnose neurological disorders in order to speed up their treatment. The lab-developed tests are for hereditary neuropathy, neuromuscular disease, epilepsy, and certain movement disorders such as hypokalemic periodic paralysis and limb girdle muscular dystrophy, among others. Although many of the diseases are relatively rare, they have been extremely difficult to diagnose using traditional testing. Moreover, the symptoms of these disorders often overlap, creating even more diagnostic issues for clinicians. An example is a disease known as Charcot-Marie-Tooth Disease, a form of hereditary motor sensory neuropathy that affects about one in 2,500 people. Its symptoms are similar to many other disorders, but an early diagnosis is considered important in order to avoid treatments that involve contraindicated medications. “The genetic causes of neurological disorders are sometimes difficult to diagnose without reliable tests that are guided by specific clinical phenotypes,” said Joseph J. Higgins, M.D., medical director for Athena and Quest Diagnostics Neurology. “In addition, overlapping clinical signs and symptoms in certain rare, neurogenetic disorders present a different challenge for physicians. The new test services for evaluating epilepsy and neuromuscular […]
Athena Diagnostics (Worcester, Mass.), a subsidiary firm of Quest Diagnostics, has introduced a panel of genetic tests to detect a wide array of difficult-to-diagnose neurological disorders in order to speed up their treatment.
The lab-developed tests are for hereditary neuropathy, neuromuscular disease, epilepsy, and certain movement disorders such as hypokalemic periodic paralysis and limb girdle muscular dystrophy, among others.
Although many of the diseases are relatively rare, they have been extremely difficult to diagnose using traditional testing. Moreover, the symptoms of these disorders often overlap, creating even more diagnostic issues for clinicians.
An example is a disease known as Charcot-Marie-Tooth Disease, a form of hereditary motor sensory neuropathy that affects about one in 2,500 people. Its symptoms are similar to many other disorders, but an early diagnosis is considered important in order to avoid treatments that involve contraindicated medications.
“The genetic causes of neurological disorders are sometimes difficult to diagnose without reliable tests that are guided by specific clinical phenotypes,” said Joseph J. Higgins, M.D., medical director for Athena and Quest Diagnostics Neurology. “In addition, overlapping clinical signs and symptoms in certain rare, neurogenetic disorders present a different challenge for physicians. The new test services for evaluating epilepsy and neuromuscular disorders will aid physicians in diagnosing these diseases, some of which may be amenable to treatment, and assist in the diagnosis of other potentially affected family members. The results will also better prepare patients and their families to make informed life decisions based on their health risks.”
According to Quest spokesperson Wendy Bost, the complicated process of properly diagnosing some of the disorders is often more harrowing than the treatment itself. Some of the disorders that can be identified via the Athena assays can be controlled easily with moderate doses of anti-convulsant medications or even keeping a patient’s potassium levels in check.
“Patients seeking to identify the source and nature of their rare disorder may also be inclined to submit to ongoing evaluations—and additional tests—adding to their frustration and heartbreak while also contributing to waste,” Bost said. “A reliable early diagnosis may help minimize the likelihood of such an unfortunate series of events.”
Quest acquired Athena in April 2011 primarily because the company leadership believes “neurology is an important and promising diagnostic market. Athena complements Quest’s broad menu in biological and molecular diagnostic information services, and significantly extends Quest’s expertise and capabilities in neurology,” Bost said. Athena was the first lab to offer a genetic test to identify sporadic amyotrophic lateral sclerosis, also known as Lou Gehrig’s disease or ALS.
Bost declined to disclose current or projected sales volumes for the assays.
