Expanding our testing for Brain Malformation conditions/syndromes, The University of Chicago Genetic Services Introduces a New Next Generation Sequencing Panel for Cerebral Cortical Malformations

Cerebral cortical malformations include a diverse group of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. These disorders include lissencephaly, pachygyria, polymicrogyria and microcephaly. Numerous genes are associated with malformations of cortical developmental, which might disrupt each of the main stages of cell proliferation and specification, neuronal migration and late cortical organization. The disruption of these steps produces characteristic morphologic anomalies, typically abnormal sulcation and gyral patterns

Our New Cerebral Cortical Malformation Panel includes sequencing of the 26 genes implicated in lissencephaly, pachygyria and polymicrogyria.