Invitae Hereditary Thrombophilia Panel
Use
The Invitae Hereditary Thrombophilia Panel analyzes genes that are associated with hereditary thrombophilia. Hereditary thrombophilia is characterized by increased clotting tendency and increased risk for deep venous thrombosis (DVT) and/or venous thromboembolism (VTE). By evaluating multiple genes associated with these conditions, the test provides a comprehensive assessment to aid in understanding the genetic propensity for thrombophilia.
Special Instructions
The test can be customized by selecting or removing genes from the panel. Preferred specimen is 3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA). Alternate specimens such as saliva, buccal swab, and gDNA are also accepted. Contact Invitae client services with any questions or for more information about specimen requirements.
Limitations
The assay achieves >99% analytical sensitivity and specificity for variants such as SNVs, insertions, and deletions (<15bp), but may be less sensitive for larger insertions/deletions smaller than a full exon. Rare single-exon copy number events might not be analyzed due to sequence properties or data quality. Structural rearrangements or variants in complex regions might not be detected. Mosaicism, phasing, or mapping ambiguity may not be resolved. Certain non-coding regions are not covered unless specified.
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)