c-KIT Mutation Analysis in Tumors of Hematopoietic Tissue

CPT: 81272
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Test Details


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 nearly all systemic mastocytosis, 20% to 40% core-binding factor (CBF) acute myeloid leukemia (AML), and approximately 20% high-grade myelodysplastic syndrome (MDS) and MDS-derived AML. c-KIT mutation in AML confers increased risk of relapse and decreased overall survival. Tyrosine kinase inhibitor, such as imatinib, has been evaluated to treat systemic mastocytosis and c-KIT-positive AML and MDS, and it was found effective as a single reagent or combination therapy.


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 US Food and Drug Administration (FDA).


Polymerase chain reaction (PCR) and DNA sequencing

Specimen Requirements


Whole blood or bone marrow


3 to 7 mL whole blood or 1 to 2 mL bone marrow

Minimum Volume

3 mL whole blood or 1 mL bone marrow


Lavender-top (EDTA) tube or green-top (sodium heparin) tube


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

Clinical Information

Special Instructions

Please direct any questions regarding this test to oncology customer service at 800-345-4363.


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


Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
480940 c-KIT Mutation, Liquid Tumor 480941 c-KIT Mutation Analysis Result 55201-8
480940 c-KIT Mutation, Liquid Tumor 480943 Nucleotide Change: 48004-6
480940 c-KIT Mutation, Liquid Tumor 480944 Amino Acid Change: 48005-3
480940 c-KIT Mutation, Liquid Tumor 480945 Background: 77202-0
480940 c-KIT Mutation, Liquid Tumor 480946 Methodology: 49549-9
480940 c-KIT Mutation, Liquid Tumor 480948 Reference: N/A
480940 c-KIT Mutation, Liquid Tumor 481527 Disclaimer: N/A
480940 c-KIT Mutation, Liquid Tumor 480949 Director Review 72486-4

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