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