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HelpTest ID MYD88 MYD88, L265P, Somatic Gene Mutation, DNA Allele-Specific PCR
Useful For
Establishing the diagnosis of lymphoplasmacytic lymphoma /Waldenstrom’s macroglobulinemia and helping to distinguish this low grade B-cell lymphoma from other subtypes
Special Instructions
Method Name
Allele-Specific Polymerase Chain Reaction (PCR)
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name
MYD88 L265P Gene Mutation AnalysisSpecimen Type
VariesThe following information is required:
1. Pertinent clinical history
2. Clinical or morphologic suspicion
3. Date of collection
4. Specimen source
Forms:
1. Hematopathology Patient Information Sheet (Supply T676)
2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request Form (T726) with the specimen
(http://www.mayomedicallaboratories.com/it-mmfiles/hematopathology-request-form.pdf)
Peripheral blood or bone marrow specimens must arrive within 10 days of collection.
Submit only 1 of the following specimens:
Specimen Type: Paraffin-embedded tissue
Container/Tube: Paraffin block
Specimen Stability: Ambient/Refrigerated
Specimen Type: Frozen tissue
Container/Tube: Plastic container
Specimen Volume: 100 mg
Specimen Stability: Frozen
Collection Instructions: Freeze tissue within 1 hour of collection.
Specimen Type: Paraffin-embedded bone marrow aspirate clot
Container/Tube: Paraffin block
Specimen Stability: Ambient/Refrigerated
Specimen Type: Extracted DNA
Container/Tube: 1.5- to 2-mL tube with indication of volume and concentration of the DNA
Specimen Volume: Entire specimen
Specimen Stability: Frozen/Refrigerated
Collection Instructions: Label specimen as extracted DNA and source of specimen
Specimen Type: Methanol-acetic acid (MAA) fixed pellets
Container/Tube: Plastic container
Specimen Stability: Ambient/Refrigerated
Specimen Type: Peripheral blood
Container/Tube: Lavender top (EDTA), yellow top (ACD solution B), or green top (heparin)
Specimen Volume: 3 mL
Specimen Stability: Ambient/Refrigerated
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
3. Label specimen as blood.
Specimen Type: Bone marrow
Container/Tube: Lavender top (EDTA), yellow top (ACD solution B), or green top (heparin)
Specimen Volume: 2 mL
Specimen Stability: Ambient/Refrigerated
Collection Instructions:
1. Invert several times to mix bone marrow.
2. Send specimen in original tube.
3. Label specimen as bone marrow.
Specimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Ambient (preferred) | 10 days |
| Refrigerated | 10 days |
Clinical Information
Single point mutation in MYD88 L265P is present in 67% to 100% of patients with lymphoplasmacytic lymphoma and these patients typically have clinical manifestations of Waldenstrom’s macroglobulinemia (often designated LPL/WM).
Reference Values
Mutation present or absent based on expected mutant PCR product size. Concurrent amplification of wild type MYD88 fragment determined for sample amplification integrity. MYD88 gene (NCBI accession NM_002468.4).
Cautions
This test is a targeted assay and will not detect any alteration at the MYD88 codon 265 that does not result in the L->P amino acid change. It will also not detect additional MYD88 mutations, including insertion/deletion events. The analytical sensitivity of the assay (1% MYD88 L265P in a wild type background) can be affected by a variety of factors, including biologic availability (ie, tumor burden), fixation of paraffin-embedded specimens, or nonspecific PCR interferences. Rare cases of lymphoplasmacytic lymphoma/Waldenstrom’s macroglobulinemia (LPL/WM) have been reported lacking the MYD88 L265P abnormality, so a negative result would not completely exclude this diagnosis, but would make the possibility of LPL/WM more unlikely.
Day(s) Performed
Monday through Friday; 1 p.m.
Report Available
3 daysPerforming Laboratory
Mayo Medical Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
81479-Unlisted molecular pathology procedure