What is Epilepsy?
Epilepsy is a common neurological disorder that affects roughly 1 in every 200 people. While epilepsy is defined by a repeated pattern of unprovoked seizures, these episodes can take numerous forms, corresponding to different types of epilepsy syndromes. The epilepsy genetics field has made great strides in the detection and classification of monogenic forms of epilepsy, but most epilepsy syndromes are genetically heterogenous. Pathogenic variants in different genes cause the same syndrome in different individuals or families, and only a fraction of the potential genetic causes have been identified. Genetic assessment is enhanced when clinical information is available.
Epilepsy Tests We Offer
MNG Laboratories offers a robust approach for diagnosing patients that present with recurring seizures with single-gene, syndrome-specific, phenotype-driven next-generation sequencing panels (NGS). Because of the complex nature of epilepsy genetics, we also provide complementary single-exon resolution copy number analysis with each NGS panel. In our Comprehensive Epilepsy panel, we go one step further to improve the diagnostic sensitivity of our test by including mtDNA sequencing and deletion analysis.In cases where a more focused diagnostic approach is desired, we offer numerous syndrome-specific panels. Our Epileptic Encephalopathy panel has been optimized using the latest versions of OMIM and ClinVar to target genes known to be involved with epileptic encephalopathy. Likewise, our Myoclonic Epilepsy takes the same approach to myoclonus and myoclonic seizures. To target early-onset epilepsies caused by pathogenic variants in known disease-causing genes that have treatment options available, we offer the MNG STAT™ Actionable Epilepsy panel, which features a 2 week turnaround with no additional charge. For a full list of genes and their corresponding clinical actions, please click here.
MNG Laboratories is committed to a patient-centered testing menu, high-quality diagnostics, and first-in-class reporting driven by our Genome MaNaGer® analysis pipeline. Our customized reporting process helps us stay at the forefront of the evolving genetics field with our regularly-updated NGS panels. Our team-based approach to variant calls ensures we provide actionable results on the pathogenic variants that cause or are likely to cause disease. Our comprehensive approach to diagnostics is accompanied by a team of customer support and scientific personnel available to answer your questions regarding our process, technology, and reports.