The tests will be unveiled during the American Academy of Neurology Annual Meeting in San Diego, March 16-23, 2013 (Booth 1413).
The tests streamline the diagnostic process by using gene sequencing and bioinformatics to evaluate many clinically-relevant genes with a single blood draw. Test reports provide information to assist clinicians and genetic counselors in confirming a diagnosis, developing a targeted treatment plan and managing patient care.
The new services include expanded testing for Charcot-Marie-Tooth disease (CMT), a hereditary motor sensory neuropathy for which early accurate diagnosis is critical to ensure patients avoid contra-indicated medications which can worsen symptoms. They also include DNA sequencing tests for myofibrillar myopathy (MFM), a debilitating disease that can lead to cardiac and respiratory complications, but is often confused with CMT and other conditions. Athena provides a broad diagnostic menu for MFM that may help physicians identify the disorder, hastening the use of aggressive supportive care that may maximize functional activity and prolong life expectancy.
In addition, the company is offering new tests for hereditary sensory and autonomic neuropathy (HSAN), hereditary neuralgic amyotrophy (HNA), hypokalemic periodic paralysis (HOKPP), limb girdle muscular dystrophy (LGMD), benign familiar infantile epilepsy and familial paroxysmal kinesigenic dyskinesia (FPKD).
Athena Diagnostics' clinical laboratory in Worcester, Mass. developed, validated and now offers the new tests.
"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, MD, FAAN, medical director for Quest Diagnostics Neurology and Athena Diagnostics. "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."
In addition, scientists from Athena Diagnostics with report new research findings during the conference. The presentations include results of a study with experts from Penn State College of Medicine on the relative prevalence of subtypes of limb girdle muscular dystrophies (poster PO7.030). The study, based on nearly 500 test results, is believed to be the largest cohort of genetically confirmed LGMD cases.
The new tests and research build on Athena's leadership in diagnostic information services for rare and esoteric disorders. Athena Diagnostics was the first laboratory company to offer a clinically validated C9orf72 genetic test to aid in the diagnosis of familial and sporadic amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease.
Athena Diagnostics is also a leader in genetic testing services for dementia, including Alzheimer's disease. Quest Diagnostics today unveiled a neurology test panel for aiding the detection of secondary causes of dementia. Medical experts at Athena Diagnostics advised Quest's scientists on the panel's concept.