Alternative Name
c-KIT Mutation Analysis
Methodology
Molecular
Test Description

Bi-directional sequencing of KIT exons 8, 9, 11, 13 and 17 for detection of activating mutations including the common mutation D816V. For solid tumors, tumor enrichment is performed before extraction. In hematological disease, testing may be performed on plasma to increase sensitivity. Testing is approved for specimens from the state of New York.

Clinical Significance

The four tested exons encompass the majority of mutations found in gastrointestinal stromal tumors (GIST), melanoma, core-binding factor AML (CBF-AML), mast cell disease (systemic mastocytosis), and germ cell tumors. Mutation identification is useful for planning TKI therapy and predicting clinical course.

Specimen Requirements
  • Peripheral blood: 5 mL in EDTA tube.
  • Bone marrow: 2 mL in EDTA tube.
  • Fixed cytogenetic cell pellet: Send all available cells suspended in fixative.
  • FFPE solid tumor tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Storage and Transportation

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Slides can be packed at room temperature.

CPT Code(s)*
81272x1
Turnaround Time

7 days

Level of Service
Global

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.