Ambry Genetics (Ambry), a leader in clinical genetic diagnostics and genetics software solutions, announced that it is launching a new suite of seven genetic testing panels for epilepsy.
Tests can be ordered from November 6 with the first samples expected to be tested on November 9.
Epilepsy is characterized by recurrent, unprovoked seizures. It is a common condition that affects about 1 in every 26 people, with approximately 150,000 new cases diagnosed in the US each year. Many epilepsies have a genetic component, and genetic testing is increasingly relevant to clinical management.
“Epilepsy is a serious disorder that can have a profound impact on a person’s life, friends and family. 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, PhD, epilepsy researcher and senior fellow at the University of Washington in Seattle.
“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. Ambry’s epilepsy panels are unique because they offer both targeted and broader testing options that can be used in combination or separately, depending on the specifics of the case. Ambry’s panels also include many of the more recently described genes associated with epilepsy. This reflects both the rapid pace at which new genetic causes are being discovered, and the relevance of both targeted and genome-wide testing options to insure clinicians are offering patients the most relevant testing available.”
Ambry’s new epilepsy tests include EpiFirst-Neonate, a targeted panel of genes most likely to cause neonatal seizures; EpiFirst-Fever, a targeted panel of genes most likely to cause febrile seizures; EpiFirst-IS, a targeted panel of genes most likely to cause infantile spasms; EpiFirst-Focal, a targeted panel of genes most likely to cause non-lesional focal epilepsy; PMEFirst, a targeted panel of genes most likely to cause progressive myoclonus epilepsy; PMENext, a broad panel of genes known to cause progressive myoclonus epilepsy; EpiNext, a broad panel of genes known to cause a variety of epilepsy syndromes.
Testing can begin with a targeted gene panel, and move to a broader panel if desired. Alternatively, the broadest panel could be ordered as the first test if appropriate for the clinical situation. This flexible model gives healthcare providers the ability to control and choose their testing approach to best suit their patient.
“At Ambry, we recognise 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, MS CGC, senior neurology product manager at Ambry.
“Smaller, targeted panels allow you to minimise cost, turnaround time, and the potential for variants of uncertain clinical significance, while larger, broader panels enable you to maximise detection rates. Ambry offers an automatic, tiered reflex option so healthcare providers can start small and test in a step-wise fashion without sacrificing comprehensiveness.”