Invitae Spondylocostal Dysostosis Panel
Use
The Invitae Spondylocostal Dysostosis Panel analyzes genes associated with disorders causing spondylocostal dysostosis. These genetically heterogeneous disorders are primarily characterized by rib and vertebral anomalies, making it difficult to use phenotype as the sole criterion for diagnosis. This panel allows for efficient evaluation of multiple potential genes based on a single clinical indication.
Special Instructions
Broad panel testing is used to address the genetic heterogeneity of spondylocostal dysostosis. Certain genes in the panel may be related to other disorders, though they are not included as targets for this test.
Limitations
This test may not detect structural rearrangements such as inversions or translocations, nor variants in regions with complex architecture like short tandem repeats. Variants in the promoter, non-coding exons, and other non-coding regions are not typically covered unless specifically stated.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)