Bi-directional sequencing of KIT exons 8, 9, 11, 13 and 17 for detection of activating mutations including the common mutation D816V. Testing is performed on cell-free plasma DNA/RNA to increase sensitivity.
The four tested exons encompass the majority of mutations found in core-binding factor AML (CBF-AML) and mast cell disease (systemic mastocytosis). Mutation identification is useful for planning therapy and predicting clinical course. In addition, this test can be used for screening and determining if a bone marrow biopsy is an absolute necessity, as well as monitoring disease status and response to therapy. It can also be used for performing molecular studies when a bone marrow sample is inadequate (dry tap, insufficient quantity, or not viable), or not available. This test should not be used for solid tumors. Tissue-based testing is recommended for solid tumors.
- Peripheral blood: 2 x 6 mL EDTA tubes (total 12 mL) or 10 mL in EDTA tube.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.