Test ID MYD88 MYD88, L265P, Somatic Gene Mutation, DNA Allele-Specific PCR, Varies
Shipping Instructions
Whole blood or bone marrow specimens must arrive within 10 days of collection.
Necessary Information
The following information is required:
1. Pertinent clinical history
2. Clinical or morphologic suspicion
3. Date of collection
4. Specimen source
Specimen Required
Submit only 1 of the following specimens:
Preferred:
Specimen Type: Bone marrow
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 2 mL
Collection Instructions:
1. Invert several times to mix bone marrow.
2. Send bone marrow specimen in original tube. Do not aliquot.
3. Label specimen as bone marrow.
Specimen Stability: Ambient (preferred)/Refrigerated
Specimen Type: Paraffin-embedded tissue
Container/Tube: Paraffin block
Specimen Stability: Ambient
Specimen Type: Paraffin-embedded bone marrow aspirate clot
Container/Tube: Paraffin block
Specimen Stability: Ambient
Acceptable:
Specimen Type: Peripheral blood
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
3. Label specimen as blood.
Specimen Stability: Ambient (preferred)/Refrigerated
Specimen Type: Frozen tissue
Container/Tube: Plastic container
Specimen Volume: 100 mg
Collection Instructions: Freeze tissue within 1 hour of collection.
Specimen Stability: Frozen
Specimen Type: Unstained slides
Container/Tube: Unstained tissue slides
Specimen Volume: 10 to20 slides
Additional Information: Tissue must demonstrate involvement by a hematologic neoplasm (eg, acute myelocytic leukemia), not solid tumors
Specimen Stability: Ambient
Specimen Type: Extracted DNA
Container/Tube: 1.5- to 2-mL tube
Specimen Volume: Entire specimen
Collection Instructions:
1. Label specimen as extracted DNA and source of specimen.
2. Indicate volume and concentration of the DNA on the label.
Specimen Stability: Frozen (preferred)/Refrigerated
Specimen Type: Methanol-acetic acid (MAA) fixed pellets
Container/Tube: Plastic container
Specimen Stability: Ambient (preferred)/Refrigerated
Forms
1. Hematopathology Patient Information (T676)
2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.
Secondary ID
62927Useful For
Establishing the diagnosis of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia
Helping to distinguish lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia (low-grade B-cell lymphoma) from other subtypes
Special Instructions
Method Name
Allele-Specific Polymerase Chain Reaction (PCR)
Reporting Name
MYD88 L265P Gene Mutation AnalysisSpecimen Type
VariesSpecimen Minimum Volume
Whole blood, Bone marrow: 1 mL
Extracted DNA: 50 mcL at 20 ng/mcL
Other specimen types: See Specimen Required
Specimen Stability Information
Specimen Type | Temperature | Time |
---|---|---|
Varies | Varies | 10 days |
Clinical Information
The single point alteration in MYD88, L265P, is present in 67% to 100% of patients with lymphoplasmacytic lymphoma, and these patients typically have clinical manifestations of Waldenstrom macroglobulinemia (often designated LPL/WM).
Reference Values
Variant present or absent based on expected alteration polymerase chain reaction product size. Concurrent amplification of wild type MYD88 fragment determined for sample amplification integrity. MYD88 gene (NCBI accession NM_002468.4).
Cautions
This MYD88 test is a targeted assay and will not detect any alteration at the MYD88 codon 265 that does not result in the L>P (leucine to proline) amino acid change. It will also not detect additional MYD88 alterations, including insertion or deletion events. The analytical sensitivity of the assay (1% MYD88 L265P in a wildtype background) can be affected by a variety of factors, including biologic availability (ie, tumor burden), fixation of paraffin-embedded specimens, or nonspecific polymerase chain reaction interferences. Rare cases of lymphoplasmacytic lymphoma/Waldenstrom 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
Report Available
5 to 8 daysPerforming Laboratory

Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81305