Bi-directional sequencing of exons 26, 27, and 34 is performed for detection of sequence variant mutations. Testing can be performed on plasma when adequate leukemic cells are not available.
NOTCH1 mutations are common in T-ALL, CLL, and mantle cell lymphoma. Mutations in ALL are associated with good prognosis, while mutations in CLL and mantle cell lymphoma are associated with poor prognosis.
- Peripheral blood: 5 mL in EDTA tube.
- Bone marrow: 2 mL in EDTA tube.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.