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c-KIT Mutation Analysis in Tumors of Hematopoietic Tissue
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.
Polymerase chain reaction (PCR) and DNA sequencing
Whole blood or bone marrow
3 to 5 mL whole blood or 1 to 2 mL bone marrow
3 mL whole blood or 1 mL bone marrow
Submit at room temperature. Indicate date and time of collection on the test request form.
Causes for Rejection
Frozen specimen; hemolysis; clotted blood specimen; quantity not sufficient for analysis
Please direct any questions regarding this test to oncology customer service at 800-345-4363.
|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||480949||Director Review||72486-4|