6 weeks
CPT Code 
Test Code 
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Cultured Cells
Extracted DNA
If sending saliva, 2 kits are required.

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 Cerebral cortical malformations panel includes analysis of the following 25 genes: ACTB, ACTG1, ARX, DCX, PAFAH1B1 (LIS1), LAMC3, RELN, TUBA1A, VLDLR, FKRP, FKTN, LARGE, POMGNT1, POMT1, POMT2, GPR56, KIAA1279, OCLN, TUBA8, TUBB2B, TUBB3, RTTN, RAB18, RAB3GAP1, RAB3GAP2.

Any gene in the Cerebral cortical malformation panel can also be ordered individually.  Please contact us directly for cost and CPT code information.