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MYD88, Mutation Analysis
Test CodeMYD88QNI-Decal
Quest Code
91771
Alias/See Also
MYD88 L265P Mutation
CPT Codes
81305 (Z001X)
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
2 mL whole blood • 0.5 mL bone marrow • 6 slides
Other Acceptable Specimens
Whole blood collected in: Sodium heparin (green-top) or ACD-B (yellow-top) tube • 2 mL bone marrow aspirate collected in an EDTA (lavender-top) tube or sodium heparin (green-top) tube • Formalin-fixed, paraffin-embedded tissue block • 10 slides tissue submitted in a slide holder • Extracted DNA from CLIA-certified laboratory or Cell pellet
Transport Temperature
Room temperature
Specimen Stability
Whole blood or bone marrow
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Formalin-fixed, paraffin-embedded tissue or fixed tissue slide
Room temperature: Indefinite
Refrigerated: Indefinite
Frozen: Unacceptable
Extracted DNA or cell pellet
Room temperature: 7 days
Refrigerated: 14 days
Frozen: 1 year
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Received frozen
Methodology
Next Generation Sequencing
Setup Schedule
Set up: Daily; Report Available: 7 days
Reference Range
Not detected
Clinical Significance
Oncogenic mutations in MYD88, in particular the L265P mutation, have been identified as driver mutations in various B-cell lymphomas. The L265P mutation is found in approximately 90% of Waldenstom macroglobulinemia and IgM-expressing lymphoplasmacytic lymphoma (LPL). There is a low incidence of L265P MYD88 mutation in other systemic CD5-negative B-cell lymphoproliferative disorders including atypical chronic lymphocytic leukemia, nodal marginal zone lymphoma (MZL), splenic MZL and mucosa-associated lymphoid tissue (MALT)-type MZL. This next-generation sequencing (NGS) based assay detects clinically significant MYD88 mutations, including the L265P mutation and can be used to help diagnose Waldenstrom macroglobulinemia or IgM-expressing lymphoplasmacytic lymphoma and to help in stratifying or subclassifying patients with IgM monoclonal gammopathy.
Performing Laboratory
Quest Diagnostics Nichols Institute
33608 Ortega Highway
San Juan Capistrano, CA 92675-2042