Classic Lissencephaly (LIS) or Lissencephaly Type 1 is a smooth or nearly smooth cerebral surface caused by deficient neuronal migration. The spectrum of malformations ranges from complete agyria (absent gyri) to regional pachygyria to subcortical band heterotopia (SBH). 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.
Our Comprehensive Lissencephaly panel includes sequencing and deletion/duplication analysis of 26 genes (ACTB, ACTG1, ARX, ATP6VOA2, B3GALNT2, B3GNT1, DCX, FKRP, FKTN, GMPPB, ISPD, LAMA2, LAMB1, LARGE, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMT1, POMT2, RELN, SNAP29, SRD5A3, TMEM5, TUBA1A, VLDLR) implicated in both classic and cobblestone lissencephaly.
Any gene in the Comprehensive Lissencephaly panel can also be ordered individually. Please contact us directly for cost and CPT code information.