Invitae Skeletal Disorders Panel
Use
The Invitae Skeletal Disorders Panel analyzes genes associated with conditions affecting the skeletal system. These disorders are characterized by abnormal bone or cartilage development. Due to the genetic heterogeneity associated with these conditions, phenotype alone may not be sufficient for diagnosis, making comprehensive panel testing crucial. This test covers clinically significant regions of each gene to ensure a thorough evaluation.
Special Instructions
This test is available through insurance, patient-pay, and a sponsored no-charge testing program called Discover Dysplasias™. Preferred specimen is whole blood; alternate specimens include saliva, buccal swab, and gDNA.
Limitations
This assay may not detect structural rearrangements or complex architecture variants. Certain sequence properties can prevent the analysis of single-exon copy number events. Regions such as promoters, non-coding exons, and other non-coding regions may not be covered unless specified. Results can be affected by hematolymphoid neoplasms, bone marrow transplants, or recent blood transfusions.
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)