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| Joseph J. Higgins, MD |
Athena Diagnostics, Worcester, Mass, a division of Quest Diagnostics, Madison, NJ, will provide clinical availability of new genetic tests to aid the detection of several rare neurological disorders, including hereditary neuropathy, neuromuscular disease, epilepsy, and certain movement disorders.
Athena Diagnostics’ clinical lab developed, validated, and now offers the new lab-developed tests.
“The genetic causes of neurological disorders are sometimes difficult to diagnose without reliable tests that are guided by specific clinical phenotypes,” says 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.”
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 contraindicated 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. The company 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).
[Source: Athena Diagnostics]
