Skeletal Dysplasia (GeneDx test code 1069)
Use
This test provides comprehensive next-generation sequencing (NGS) for a broad set of genes associated with skeletal dysplasias. It aims to deliver molecular diagnoses for individuals presenting with dysmorphic skeletal phenotypes, enabling earlier identification of genetic etiologies and informing management, treatment decisions, and familial recurrence risk.
Special Instructions
Order through GeneDx provider portal or requisition; sample requirements may include blood or saliva as per GeneDx standard collection procedures. Include complete clinical history to facilitate interpretation.
Limitations
Turnaround times are estimates that begin once the sample is received and completed billing/clinical review. Testing may not detect certain variant types (e.g., large CNVs, structural variants) unless specifically validated and additional testing may be required.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided