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 Malformation Sequencing Panel includes sequence analysis of the following 46 genes: ACTB, ACTG1, ARFGEF2, ARX, ATP6V0A2, B3GALNT2, B3GNT1, DCX, DYNC1H1, ERMARD, FKRP, FKTN, GMPPB, GPR56, KIAA1279, KIF2A, KIF5C, LAMA2, LAMC3, LARGE, NDE1, OCLN, PAFAH1B1 (LIS1), POMGNT1, POMGNT2, POMK, POMT1, POMT2, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SNAP29, SRD5A3, TBC1D20, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, WDR62.
Any gene in the Cerebral Cortical Malformation Sequencing Panel can also be ordered individually. Please contact us directly for cost and CPT code information.