Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinemia, MYD88 L265P with Reflex to CXCR4, Varies
Use
This test is useful for establishing a diagnosis of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia (LPL/WM), helping to distinguish it from other low-grade B-cell lymphomas. It aids in the prognosis and clinical management of LPL/WM, as the MYD88 L265P mutation is highly associated with this disease, and the presence of CXCR4 mutations can influence clinical presentation and response to therapy.
Special Instructions
The test begins with MYD88 L265P testing using allele-specific PCR, and reflex testing for CXCR4 is performed if MYD88 L265P is detected. Specimens must be handled promptly, and whole blood or bone marrow must arrive within 10 days of collection.
Limitations
This MYD88 test is targeted for specific mutations and will not detect other variants or alterations. The analytical sensitivity of the assay is 1% for MYD88 L265P and may be affected by factors such as sample quality and PCR interferences. Reflex testing examines only the C-terminal end of CXCR4 and has a similar sensitivity limitation. Negative results cannot conclusively exclude LPL/WM diagnosis.
Methodology
PCR-based (Sanger)
Biomarkers
LOINC Codes
- 82140-5
- 31208-2
- 82140-5
- 50398-7
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Bone Marrow
Volume
2 mL
Minimum Volume
0.5 mL
Container
Lavender top (EDTA); Acceptable: Yellow top (ACD), green top (sodium heparin)
Collection Instructions
Invert several times to mix bone marrow. Send in original tube. Do not aliquot. Label as bone marrow.
Causes for Rejection
Gross hemolysis, B5-fixed tissues, Decalcified bone marrow core biopsies, Methanol acetic acid (MAA)-fixed pellets, Paraffin shavings, Moderately to severely clotted.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 10 days |
| Refrigerated | 10 days |
| Frozen | Frozen |
