Brain malformations include a diverse group of developmental disorders that are common causes of neurodevelopmental delay, intellectual disability and epilepsy. While a cause cannot always be determined, brain malformations may arise as a result of genetic defects, environmental exposures, or a combination of factors. Genes that have been associated with brain malformations are mainly involved in each of the main stages of cell proliferation and specification, neuronal migration; late cortical organization and disruption of these steps produces characteristic morphologic anomalies.

The University of Chicago Genetics Services Laboratories offers a wide spectrum of genetic tests to identify these genetically heterogeneous group of disorders.

Any gene on any of the panels below can also be ordered individually. Please contact us directly for cost and CPT code information.