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 cell proliferation and specification, neuronal migration, and late cortical organization. Brain malformations may be diagnosed throughout an individual’s lifetime as the severity may vary significantly.

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

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