Polymicrogyria (PMG) is a cortical brain malformation which is characterized by an excessive number of small irregular gyri separated by shallow sulci, which leads to an irregular cortical surface. PMG varies widely in extent and location in the brain depending on the underlying etiology or syndrome, and can be isolated to a single region of one hemisphere, bilateral and asymmetric, bilateral and symmetric, or diffuse. Depending on the extent, subtype, and underlying etiology of PMG, clinical manifestations may range from selective impairment of cognitive function to severe encephalopathy with intractable epilepsy. PMG may be isolated, or observed as part of a multiple congenital anomaly syndrome. It may be associated with a genetic etiology, or may be due to exogenic causes such as infection, or impaired hemodynamic disturbances. Our Polymicrogyria Panel includes full gene sequencing of GPR56, GPSM2, KIAA1279, NDE1, OCLN, RTTN, TBC1D20, TUBA1A, TUBA8, TUBB2B, TUBB3, RAB18, RAB3GAP1, RAB3GAP2, WDR62.
Any gene in the Polymicrogyria panel can also be ordered individually. Please contact us directly for cost and CPT code information.