Improved Epilepsy Portfolio
April 3, 2017
Our Epilepsy Portfolio
When it comes to a Comprehensive Epilepsy Panel, it’s not just about the number of genes in that panel. You should expect a lab to know how
to find a pathogenic variant that could be the cause of your patients’ conditions, regardless of the number of genes that should be analyzed.
In addition to well established, routinely tested epilepsy associated variants, we also report novel predicted disruptive variants causing epilepsy. We routinely review approximately 15,700 disease causing variants in genes associated with conditions that include seizures as a part of the clinical presentation. That’s over 20%
more than our closest competitor and as much as 4 times that of others
Comprehensive Epilepsy Panel
Our 3 key subpanels have been expanded to ensure identification of a greater number of variants, both single nucleotide and copy number variants, likely to cause specific types of epilepsy. In addition to our expanded Myoclonic Epilepsy and Epileptic Encephalopathy panels, we are also pleased to announce a new panel to our portfolio: Actionable Epilepsy Panel
. Our Actionable Epilepsy Panel focuses on genetic causes that have well established, specific management recommendations established to optimize patient care.
Our Actionable Epilepsy Panel and Myoclonic Epilepsy Panel
identifies more known pathogenic variants associated with seizures than any of our competitors’ related panels.
Actionable Epilepsy Panel
Myoclonic Epilepsy Panel
In order to provide the most relevant and scientifically verified variants in our reports, our Epileptic Encephalopathy Panel
only includes those genes associated with OMIM phenotype searches, and known ClinVar associated pathogenic and likely pathogenic variants.
Epileptic Encephalopathy Panel
Epilepsy is a complex disease category that requires a variety of diagnostic approaches. We strive to give you the best answers possible when you trust us with your patients’ samples. Led by our Neurogenetic Answers™ platform combined with our proprietary Genome MaNaGer™ variant calling tool, we are fully confident in our ability to help you get the answers you need.