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Athena Diagnostics Announces New Genetic Testing Services for Rare Neurological Disorders
Date:3/18/2013

(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

SOURCE Athena Diagnostics
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