By Ron Shinkman, Editor, Laboratory Industry Report
Ambry Genetics has introduced a panel of genetic tests intended to gauge the underlying causes of epileptic seizures.
The California-based laboratory has introduced seven different tests that can detect a genetic component for a wide range of seizures, including neonatal seizures, febrile seizures, progressive myoclonus epilepsy, as well as a panel that can detect a broad range of genes linked to epileptic disorders.
“While epilepsy can be related to an identifiable brain injury, such as infection or stroke, the cause is unknown in the majority of patients,” said Gemma Carvill, an epilepsy researcher and senior fellow at the University of Washington in Seattle, in a statement. “Genetic testing is an important option for patients who have epilepsy without an identified cause because it may uncover a possible mutation that can help guide decisions for prognosis, treatment and other medical care.”
There are about 150,000 cases of epilepsy diagnosed in the U.S. annually. About 4 percent of Americans suffer some form of seizures in their lifetime.
“At Ambry, we recognize that the one-size-fits-all model doesn’t always work when it comes to selecting genetic testing. That is why we developed a variety of epilepsy panels to offer healthcare professionals and their patients a flexible range of tests,” said Amanda Bergner, Ambry’s senior neurology product manager, in a statement. “Smaller, targeted panels allow you to minimize cost, turnaround time, and the potential for variants of uncertain clinical significance, while larger, broader panels enable you to maximize detection rates.”