Casandra
Casandra Test Code GE40577Version 1 (DRAFT)
Performing Lab
Lab GeneDxLab Test ID 691
Comprehensive Brain Malformations Panel
Clinical Use
Order TestUse
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
Not provided.
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.
Test Details
Methodology
NGS (Targeted)
Biomarkers
NGS Panel with CNV Analysis • Targeted
Result Turnaround Time
0 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
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