Cobblestone lissencephaly (COB) previously designated as lissencephaly "type 2", is a brain malformation consisting of a complex cortical dysplasia with glioneuronal heterotopia on the brain surface, moderate to severe lissencephaly, dysmyelination, hypoplastic brainstem, and dysplastic cerebellum with cysts. These findings on brain MRI are pathognomonic of a continuum of autosomal recessive diseases with cerebral, ocular and muscular deficits, Walker-Warburg syndrome, muscle-eye-brain and Fukuyama muscular dystrophy. Our Cobblestone Lissencephaly panel includes sequencing of 18 genes (ATP6V0A2, B3GALNT2, B3GNT1, FKTN, FKRP, GMPPB, LAMA2, LAMB1, LARGE, POMGNT1, POMGNT2, POMK, POMT1, POMT2, ISPD, SNAP29, SRD5A3, TMEM5) associated with cobblestone lissencephaly
Any gene in the Cobblestone Lissencephaly panel can also be ordereing individually. Please contact us directly for cost and CPT code information.