KIT (D816V) Digital PCR in Systemic Mastocytosis
Also known as: cKIT, KIT
Use
Systemic mastocytosis (SM) is a hematopoietic neoplasm characterized by an abnormal growth of clonal mast cells in bone marrow and other extracutaneous organs. Tyrosine kinase inhibitors, such as imatinib and avapritinib, have been evaluated to treat systemic mastocytosis.
Special Instructions
Not provided.
Limitations
This test will detect the KIT D816V mutation only. A negative result does not exclude the possibility of other mutations in KIT or the presence of the KIT D816V mutation below the detection limit. Developed and performance characteristics determined by Labcorp; not FDA cleared or approved.
Methodology
PCR-based (ddPCR)
Biomarkers
No genes
Gene
LOINC Codes
- 88519-4 - KIT c.2447A>T Bld/T Ql
- 66746-9 - Specimen type
- 63419-6 - PIK3CA gene Mut Tested Bld/T
- 49549-9 - Ref lab test method
- 75608-0 - Citation Ref Lab Test
- 80563-0 - Report
- 72486-4 - Lab director name Provider
Result Turnaround Time
5-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3-5 mL
Minimum Volume
3 mL
Container
Lavender-top (EDTA) tube, green-top (sodium heparin) tube, tan-top (K2-EDTA) tube or pink-top (K2-EDTA) tube
Collection Instructions
Ship specimen at room temperature. Specimen should arrive in the laboratory within 48 hours of collection. If stored before shipment, store at 2°C to 8°C. Indicate date and time of collection on the request form.
Storage Instructions
Refrigerate. Stable for 72 hours at room temperature or refrigerated.
Causes for Rejection
Specimen does not meet collection criteria; frozen whole blood, marrow, or cell pellet; leaking tube; clotted blood or marrow; grossly hemolyzed specimen or otherwise visibly degraded; contamination by another specimen; specimens containing suspicious foreign material
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