c-KIT Mutation Analysis in Tumors of Hematopoietic Tissue c-KIT Mutation Analysis in Tumors of Hematopoietic Tissue

Message

480940

Test Code

480940

CPT Codes
81404

Minimum Volume

3-5 mL whole blood or 1-2 mL bone marrow

Other Acceptable Specimens

Whole blood or bone marrow

Instructions

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

Transport Container

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

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Frozen specimen; hemolysis; clotted blood specimen; quantity not sufficient for analysis

FDA Status
Polymerase chain reaction (PCR) and DNA sequencing

Clinical Significance

c-KIT is a proto-oncogene that encodes a type III trans-membrane 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.

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.