KIT D816V Mutation
Use
The KIT PCR assay aids in the diagnosis of mastocytosis and provides prognostic and predictive information for tyrosine kinase inhibitor (TKI) therapy planning. It is particularly useful for detecting the presence of D816V mutations associated with various types of myeloproliferative diseases, which can inform treatment decisions and aid in clinical management.
Special Instructions
Performed by affiliate laboratory. Ensure concentration and volume are provided for all samples when using extracted DNA. Frozen blood and bone marrow samples are not accepted. Isolation of nucleic acids for clinical testing must occur in a CLIA-certified laboratory or a laboratory meeting equivalent requirements.
Limitations
Specimen quality and DNA concentration can influence test results. The test is designed to detect the D816V mutation but may not detect all rare KIT mutations. It is not suitable for detecting mutations other than those specified, nor for quantitative analysis. Kit performance is also subject to variability in nucleic acid isolation methods and conditions.
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
1mL
Container
EDTA preferred (ACD or NaHep accepted)
Storage Instructions
2°C to 8°C
Causes for Rejection
Improper specimen labeling; Insufficient sample volume; Insufficient DNA isolated; specimens received outside of stability
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Indefinite |
| Refrigerated | 14 Days |
| Frozen | Long Term |