Institutional Price 
$2,500.00
TAT 
8 weeks
CPT Code 
81406 and 81407
Test Code 
1136
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Notes 
Any gene in the Cobblestone Lissencephaly Panel can also be ordered individually. Please contact us directly for cost and CPT code information.

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.