Cerebral cortical malformations include a diverse group of developmental disorders that are common causes of developmental disability and epilepsy including 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. Pontocerebellar  hypoplasia (PCH) is a group of rare autosomal recessive neurodegenerative disorders with a prenatal onset, characterized by cerebellar hypoplasia in addition to varying degrees of atrophy of the cerebellum and pons. Cerebellar Vermis Hypoplasia (CVH) consists of isolated vermis hypoplasia and may also be called “Dandy-Walker variant” due to the phenotypic overlap with Dandy-Walker malformation (DWM). DWM includes vermis hypoplasia in addition to several other features such as enlarged posterior fossa. 

This Comprehensive Brain Malformation Panel includes sequence and deletion/duplication analysis of over 125 genes associated with disorders of cerebral cortical development and cerebellar/pontocerebellar hypoplasia.  

Institutional Price 
$3,000.00
TAT 
6 weeks
CPT Code 
81443
Test Code 
1130
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Additional Information 
Any gene in the Cerebral Cortical Malformations Panel can also be ordered individually. Please contact us directly for cost and CPT code information.