Comprehensive Brain Malformations Panel
Use
This panel targets structural brain malformations that arise from disturbances in normal brain development, including cortical malformations, Joubert syndrome, and pontocerebellar hypoplasia. Patients often present with developmental and neurological symptoms such as intellectual disability, epilepsy, and movement disorders. Genetic analysis helps clarify diagnosis and inform clinical management.
Special Instructions
Orderable via the Neurology Test Requisition Form (Test Menu code 691). Panels may be upgraded to the currently listed version on genedx.com. GeneDx reserves the right to modify test codes, genes, or gene quantities at any time.
Limitations
The test may not capture non–coding variants or structural variants beyond exon-level CNVs. Diagnostic yield may vary by malformation type and phenotypic variability.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided