Casandra
Casandra Test Code PG62928Version 1 (DRAFT)
Performing Lab
Spondylocostal Dysostosis Panel
Clinical Use
Order TestUse
This test is designed for individuals who have relevant clinical features or a suspected diagnosis of Spondylocostal Dysostosis. It is also suitable for those identified with vertebral segmentation defects on fetal ultrasound as early as 13 weeks gestation, and individuals from Puerto Rican families with a suspicion of MESP2-related Spondylocostal Dysostosis.
Special Instructions
Not provided.
Limitations
The test has not been cleared or approved by the US Food and Drug Administration. The accuracy and completeness of the test results depend on the quality and thoroughness of the clinical information provided with the test requisition.
Test Details
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Mutation (6 genes)
DLL3MESP2LFNGHES7TBX6RIPPLY2
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided