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HelpTest Code LABMYD88 MYD88, L265P, Somatic Gene Mutation, DNA Allele-Specific PCR, Varies
Additional Codes
| Test Name in EPIC | EPIC Test Code | Mnemonic | Mayo Test ID |
|---|---|---|---|
| MYD88 L265P GENE MUTATION ANALYSIS | LABMYD88 | MYD88 | MYD88 |
Useful 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
Reporting Name
MYD88 L265P Gene Mutation AnalysisSpecimen Type
VariesShipping Instructions
Whole blood or bone marrow specimens must arrive within 10 days of collection.
Necessary Information
Specimen Required
Submit only 1 of the following specimens:
Preferred:
Specimen Type: Bone marrow aspirate
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD), green top (sodium heparin)
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 Information: Ambient (preferred) 10 days/Refrigerated 10 days
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD), green top (sodium heparin)
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 Information: Ambient (preferred) 10 days/Refrigerated 10 days
Specimen Type: Paraffin-embedded tissue
Container/ Tube: Paraffin block
Collection Instructions:
1. Decalcified specimens (eg, bone marrow core biopsies) are not acceptable.
2. Indicate specimen source.
Specimen Stability Information: Ambient
Additional Information: If the quality of the biopsy specimen is poor, testing should not be ordered. Testing may be canceled if DNA requirements are inadequate.
Acceptable:
Specimen Type: Tissue slide
Slides: 20 unstained slides
Container/ Tube: Transport in plastic slide holders.
Collection Instructions:
1. Send 20 unstained, nonbaked slides with 5-micron thick sections of tissue.
2. Decalcified specimens (eg, bone marrow core biopsies) are not acceptable.
3. Indicate specimen source.
Specimen Stability Information: Ambient
Additional Information: Testing may be canceled if resultant extracted DNA does not meet concentration requirements.
Specimen Type: Frozen tissue
Container/Tube: Plastic container
Specimen Volume: 100 mg
Collection Instructions:
1. Freeze tissue within 1 hour of collection
2. Indicate specimen source.
Specimen Stability Information: Frozen
Specimen Type: Extracted DNA
Container/Tube: 1.5- to 2-mL tube
Specimen Volume: Entire specimen
Collection Instructions:
1. DNA must be extracted within 7 days of collection.
2. Label specimen as extracted DNA and source of specimen.
3. Provide volume and concentration of DNA on label.
Specimen Stability Information: Frozen (preferred)/Refrigerated/Ambient
Additional Information: DNA must be extracted in a CLIA-certified laboratory or equivalent and must be extracted from a specimen type listed as acceptable for this test (including applicable anticoagulants). We cannot guarantee that all extraction methods are compatible with this test. If testing fails, one repeat will be attempted, and if unsuccessful, the test will be reported as failed and a charge will be applied.
Specimen Minimum Volume
Whole blood, bone marrow aspirate, body fluid: 0.5 mL; Frozen tissue: 50 mg; Extracted DNA: 50 microliters (mcL) at 20 ng/mcL; Tissue slides: 10 unstained slides
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Varies | 10 days |
Reject Due To
| Gross hemolysis | Reject |
| B5-fixed tissues | Reject |
| Decalcified bone marrow core biopsies | Reject |
| Frozen tissue | Reject |
| Methanol acetic acid (MAA)-fixed pellets | Reject |
| Moderately to severely clotted | Reject |
| Paraffin shavings | Reject |
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)
Interpretation
Mutation present or not detected; an interpretive report will be issued.
Cautions
This MYD88 test is a targeted assay and will not detect any alteration at 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 wild-type 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 to lack the MYD88 L265P abnormality, so a negative result would not completely exclude this diagnosis but would make the possibility of LPL/WM more unlikely.
Method Description
Extracted DNA from the clinical specimen is subjected to a single-tube allele-specific polymerase chain reaction (PCR) using MYD88 exon 5 primers that simultaneously amplify both a wildtype sequence fragment and a fragment containing the specific nucleotide change resulting in L265P if present. PCR products are visualized by capillary electrophoresis, and the presence of altered and wildtype amplicons is determined according to the expected specific PCR product sizes.(Unpublished Mayo method)
Day(s) Performed
Monday through Friday
Report Available
5 to 8 daysSpecimen Retention Time
Bone marrow aspirate/Whole blood/Fresh/Frozen Tissue: 2 weeks; Extracted DNA: 3 months; FFPE tissue: Unused portions of blocks will be returned to the client. Unstained slides: Not retainedPerforming Laboratory
Mayo Clinic Laboratories in Rochester
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
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| MYD88 | MYD88 L265P Gene Mutation Analysis | 82140-5 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| MP021 | Specimen Type | 31208-2 |
| 36308 | Final Diagnosis | 82140-5 |
| 621251 | MYD88 Cancel | 77202-0 |
Method Name
Allele-Specific Polymerase Chain Reaction (PCR)
Forms
1. Hematopathology Patient Information (T676)
2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.