Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81403
Test Code 
1157
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
If sending saliva, 2 kits are required.

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.