Bi-directional sequencing to detect the C481S mutation in exon 15 and other potential mutations within the amino acid range C464 to M509. Testing is available separately or in combination with PLC-gamma-2 in the BTK Inhibitor Acquired Resistance Panel. NeoGenomics recommends ordering the combination Panel.
Bruton's tyrosine kinase (BTK) is involved in multiple signaling pathways regulating proliferation, differentiation, and survival of B-lineage lymphoid cells. Multiple BTK inhibitors are in use (such as ibrutinib and dasatanib) and in clinical trials. Mutations are associated with acquired or secondary resistance to ibrutinib arising after initial response in B-cell disorders including CLL and mantle cell lymphoma.
- Peripheral blood: 5 mL in EDTA tube.
- Bone marrow: 2 mL in EDTA tube.
- FFPE 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.