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c-KIT Mutation Analysis in Tumors of Hematopoietic Tissue
CPT:
81272
Special Instructions
Please direct any questions regarding this test to oncology customer service at 800-345-4363.
Expected Turnaround Time
10 - 14 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Specimen Requirements
Specimen
Whole blood or bone marrow
Volume
3 to 5 mL whole blood or 1 to 2 mL bone marrow
Minimum Volume
3 mL whole blood or 1 mL bone marrow
Container
Lavender-top (EDTA) tube, green-top (sodium heparin) tube, tan-top (K2-EDTA) tube or pink-top (K2-EDTA) tube
Collection
Submit at room temperature. Indicate date and time of collection on the test request form.
Storage Instructions
Ship at room temperature; if specimen is stored prior to shipment, store at 2°C to 8°C.
Causes for Rejection
Specimen does not meet all of the above criteria for sample type, container, minimum volume, collection and storage; unsuitable specimens include but are not limited to: frozen whole blood or marrow; a leaking tube; clotted blood or marrow; a grossly hemolyzed specimen or otherwise visibly degraded; specimen suspected of being contaminated by another specimen; specimen contains specific foreign material
Test Details
Use
c-KIT is a proto-oncogene that encodes a type III transmembrane tyrosine kinase. c-KIT and its ligand stem cell factor have a key role in survival, proliferation, differentiation and functional activation of hematopoietic progenitor cells. c-KIT mutations are reported in the majority of systemic mastocytosis cases. For KIT D816V mutation analysis by high sensitivity digital PCR, please see test KIT D816V Digital PCR. c-KIT mutations account for 20% to 40% in core-binding factor (CBF) acute myeloid leukemia (AML). c-KIT mutations also occur in MDS and contribute to MDS risk stratification. c-KIT mutation in AML confers increased risk of relapse and decreased overall survival. Tyrosine kinase inhibitors, such as imatinib and avapritinib, have been evaluated to treat systemic mastocytosis. Imatinib has also been evaluated to treat c-KIT-positive AML and MDS, and it was found effective as a single reagent or combination therapy.
Limitations
Genomic DNA was purified from the provided specimen. Exons 8 and 17 of c-KIT gene coding were subjected to PCR amplification and bidirectional sequencing in duplicate to identify sequence variations. This assay has a sensitivity to detect approximately 10% population of cells containing the c-KIT mutations in a background of nonmutant cells. This assay will not detect the mutation below the sensitivity of the assay. Molecular-based testing is highly accurate but, as in any laboratory test, rare diagnostic errors may occur.
This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.
Methodology
Polymerase chain reaction (PCR) and DNA sequencing
References
Care RS, Valk PJ, Goodeve AC, et al. Incidence and prognosis of c-KIT and FLT3 mutations in core binding factor (CBF) acute myeloid leukaemias. Br J Haematol. 2003 Jun; 121(5):775-777.12780793
Gotlib J, Berubé C, Growney JD, et al. Activity of the tyrosine kinase inhibitor PKC412 in a patient with mast cell leukemia with the D816V KIT mutation. Blood. 2005 Oct 15; 106(8):2865-2870.15972446
Lorenzo F, Nishii K, Monma F, Kuwagata S, Usui E, Shiku H. Mutational analysis of the KIT gene in myelodysplastic syndrome (MDS) and MDS-derived leukemia. Leuk Res. 2006 Oct; 30(10):1235-1239.16533529
Paschka P, Marcucci G, Ruppert AS, et al. Adverse prognostic significance of KIT mutations in adult acute myeloid leukemia with inv(16) and t(8;21): A Cancer and Leukemia Group B Study. J Clin Oncol. 2006 Aug 20; 24(24):3904-3911.16921041
Schittenhelm MM, Shiraga S, Schroeder A, et al. Dasatinib (BMS-354825), a dual SRC/ABL kinase inhibitor, inhibits the kinase activity of wild-type, juxtamembrane, and activation loop mutant KIT isoforms associated with human malignancies. Cancer Res. 2006 Jan 1; 66(1):473-481.16397263
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 480940 | c-KIT Mutation, Liquid Tumor | 55201-8 | 480941 | c-KIT Mutation Analysis Result | 55201-8 | |
| 480940 | c-KIT Mutation, Liquid Tumor | 55201-8 | 480943 | Nucleotide Change: | 48004-6 | |
| 480940 | c-KIT Mutation, Liquid Tumor | 55201-8 | 480944 | Amino Acid Change: | 48005-3 | |
| 480940 | c-KIT Mutation, Liquid Tumor | 55201-8 | 480945 | Background: | 77202-0 | |
| 480940 | c-KIT Mutation, Liquid Tumor | 55201-8 | 480946 | Methodology: | 49549-9 | |
| 480940 | c-KIT Mutation, Liquid Tumor | 55201-8 | 480948 | Reference: | N/A | |
| 480940 | c-KIT Mutation, Liquid Tumor | 55201-8 | 481527 | Disclaimer: | N/A | |
| 480940 | c-KIT Mutation, Liquid Tumor | 55201-8 | 480949 | Director Review | 72486-4 |
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