Complex cortical dysplasia with other brain malformations (CDCBM) is a neuronal migration disorder associated with axon guidance defects. Clinically, patients have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Cortical malformations seen on brain MRI include: polymicrogyria, gyral disorganization, fusion of the basal ganglia, thin corpus callosum, hypoplastic brainstem, and abnormal cerebellar vermis. Abnormalities of the TUBB3 gene were reported in approximately 10% (12/120) of patients with CDCBM. Sequencing of TUBB3 can be ordered as a single test, or as part of our Polymicrogyria Panel.
Specimen Types Accepted