Craniosynostosis and Related Disorders Panel
Use
This test is designed for individuals exhibiting features suggestive of craniosynostosis and related disorders. The test aims to identify genetic mutations associated with these conditions, enabling a more accurate diagnosis, clinical management, and personalized treatment planning. It offers valuable insights for clinicians in confirming a suspected diagnosis and understanding the genetic basis of the disorder.
Special Instructions
The test should be ordered by a qualified healthcare provider. A completed online order or paper Test Requisition Form (TRF) and labeled specimen are required to initiate testing. The availability of Exome-Wide CNV Analysis as an add-on should be confirmed on the website, and it is unavailable for PG-Select panels, Sanger sequencing, and other test methods. For time-sensitive cases, the STAT option accelerates processing, but additional charges apply unless delivery is delayed beyond 16 days.
Limitations
This test has not been cleared or approved by the US Food and Drug Administration. The detection is limited to the genes specifically included in the panel. Excluded variants that are outside the scope of this panel will not be identified. The completeness of variant interpretation is linked to the quality and comprehensiveness of the clinical information provided by the ordering clinician.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided