Real-Time Polymerase Chain Reaction (PCR)
The L265P mutation in the MYD88 gene is detected in approximately 90% of lymphoplasmacytic lymphoma/Waldenstrom Macroglobulinemia (WM), 30% of activated B-cell type diffuse large B-cell lymphoma (ABC-DLBCL), and half of IgM monoclonal gammopathy of undetermined significance (IgM-MGUS) cases. MYD88 L265P testing can aid in the diagnosis of these neoplasms. The presence of MYD88 L265P is also associated with higher risk of disease progression in IgM-MGUS. This test qualitatively detects the MYD88 L265P mutation in peripheral blood, bone marrow, and formalin fixed paraffin-embedded tissue to a sensitivity of 2% mutant allele.
Interpretive report provided.
This test will only detect the c.794T>C (L265P) mutation. This mutation is seen in approximately 90% of lymphoplasmacytic lymphomas, but may also be seen in other lymphoproliferative disorders as well as IgM monoclonal gammopathy of undetermined significance (IgM-MGUS). A negative result does not rule out the presence of a low level mutation below the sensitivity of detection (1% mutant allele) or a MYD88 mutation other than L265P.
3 - 10 days
- Waldenstrom Macroglobulinemia (WM)
- Lymphoplasmacytic Lymphoma
- Activated B-cell type diffuse large B-cell lymphoma (ABC-DLBCL)
- IgM monoclonal gammopathy of undetermined significance (IgM-MGUS)
Collect blood or bone marrow in a lavender top tube. Refrigerate and send intact blood or bone marrow specimen within 48 hours of collection. Fresh tissue (preferably 0.5cm3, sent in RPMI) and fresh aspirates or body fluids are acceptable. Refrigerate and send, preferably within 24 hours. Frozen tissue specimens – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fresh cell suspensions in RPMI should be refrigerated and sent, preferably within 48 hours. Frozen cell suspensions – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fixed cytogenetic cell suspensions or pellets in Carnoy’s fixative. Refrigerate and send. For formalin-fixed, paraffin-embedded tissue, a tissue block is preferred. Unstained, UNBAKED slides (5-8, 10-micron slides; 10-15 if few neoplastic cells are present) with associated H&E stained slide are also acceptable. Decalcified tissue or other fixatives will be accepted and the assay attempted, however these may result in failed testing due to degraded nucleic acid. Both blocks and slides should be stored at room temperature.
By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes pathologist interpretation of results billed as a separate additional charge. This test is not available without interpretation.