In addition to our existing testing for Early Infantile Epileptic Encephalopathy , The University of Chicago Genetic Services Introduces a New Next Generation Sequencing Panels for Infantile and Childhood Epilepsy.

Epilepsy is a disorder of the central nervous system characterized by two or more seizures which occur at least 24 hours apart and are unprovoked by an acute systemic or neurological insult. The term “epilepsy” is an umbrella term under which many types of diseases are included, which have a multitude of etiologies and outcomes. Epilepsy may be isolated, or may be a clinical feature of a syndrome with additional findings. Epilepsy can have a genetic etiology, however the disorder can also be due to many other causes, including prenatal or birth injury, inborn error of metabolism, congenital brain malformation, CNS infection, brain tumors, and trauma . The true etiology may not be identified in many cases.

Our New Infantile and Childhood Epilepsy Panel includes sequencing of the 75 genes implicated in infantile epilepsy, childhood epilepsy, metabolic disorders associated with epilepsy, neuronal ceroid lipofuscinoses and syndromic forms of epilepsy.

Comprehensive sequence coverage of the coding regions and splice juntions of all genes in this panel is performed.  Targets of interests are amplified using highly parallelized and multiplexed PCR reactions assembled with the Agilent System.  DNA is sequenced using Illumina technology and reads are aligned to the reference sequence.  Variants are identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.  All novel and/or potentially pathogenic variants are confirmed by Sanger sequencing.  The technical sensitivity of this test is estimated to be >99% for single nucleotide changes and insertions and deletions of less than 20bp

We are pleased to add this comprehensive panel to our current catalogue of testing for Epilepsy