Craniosynostosis Panel
Use
This panel is intended to detect pathogenic variants associated with craniosynostosis, a condition characterized by premature fusion of cranial sutures. It analyzes multiple genes known to be implicated in craniosynostosis, helping clinicians establish a molecular diagnosis to inform management, genetic counseling, and recurrence risk assessment.
Special Instructions
Order using Test Code TA40 (“Craniosynostosis Panel”) as listed on the GeneDx Rare Disorders Test Requisition Form. Refer to the GeneDx website for most current gene list and technical limitations, as panels may be updated.
Limitations
Technical limitations may include inability to detect deep intronic variants, structural variants not covered by the method, or regions with poor coverage. The panel may be updated over time; refer to the GeneDx website for current technical limitations and gene list.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided