Spondylocostal Dysostosis Panel
Use
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
This test can be ordered using the standard test requisition form available on the PreventionGenetics website. It can also be ordered with additional options such as Exome-Wide CNV Analysis. Please refer to the order form for detailed instructions and special options.
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.
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