KIT (D816V) Mutation by ddPCR, Quantitative
Use
Assists in the diagnosis of systemic mastocytosis by detecting and quantifying the KIT D816V point mutation. The detected variant allele frequency can provide prognostic and therapeutic guidance, particularly relating to tyrosine kinase inhibitor responsiveness in mast cell disorders.
Special Instructions
Not provided.
Limitations
Only the KIT D816V mutation (c.2447A>T) is detected; mutations below the assay’s analytic sensitivity (approx. 0.03–0.1% VAF) may not be detected; sample issues or DNA quality may affect performance.
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
2-9 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
1 mL
Container
EDTA (lavender‑top) tube
Collection Instructions
Collect whole blood in EDTA (lavender‑top); sodium heparin (green‑top) also acceptable.
Causes for Rejection
Plasma, serum, FFPE tissue, fresh or frozen tissue; specimens collected in anticoagulants other than EDTA or sodium heparin; clotted or grossly hemolyzed specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 7 days |
| Frozen | Unacceptable |