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Epilepsy is a common neurological disorder that affects 4-10 in every 1000 people.1 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.
MNG Laboratories, a Labcorp Company, 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, MNG also performs single-exon resolution copy number variation (CNV) analysis with each NGS panel. In the Comprehensive Epilepsy panel, MNG goes one step further to improve the diagnostic sensitivity of testing by including mitochondrial DNA sequencing and deletion analysis.
In cases where a more focused diagnostic approach is desired, we offer numerous syndrome-specific panels. MNG’s 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.
Diagnosing epilepsy may involve a comprehensive investigation into both genetics and neurological biochemistry. In addition to the epilepsy genetics portfolio, MNG also offers an extensive menu for testing vital epilepsy biomarkers, including 5-Methyltetrahydrofolate, Alpha Aminoadipic Semialdehyde, and Pyridoxal 5’-phosphate. These tests may also be ordered as STAT, with results within 7 days.