Test Id : MYD88
MYD88, L265P, Somatic Gene Mutation, DNA Allele-Specific PCR, Varies
Useful For
Suggests clinical disorders or settings where the test may be helpful
Establishing the diagnosis of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia
Helping to distinguish lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia (low-grade B-cell lymphoma) from other subtypes
Method Name
A short description of the method used to perform the test
Allele-Specific Polymerase Chain Reaction (PCR)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
MYD88
L265P
B-cell lymphoma
LPL/WM
Lymphoplasmacytic lymphoma
Waldenstrom's macroglobulinemia
Specimen Type
Describes the specimen type validated for testing
Varies
Shipping Instructions
Whole blood or bone marrow specimens must arrive within 10 days of collection.
ORDER QUESTIONS AND ANSWERS
| Question ID | Description | Answers |
|---|---|---|
| MP021 | Specimen Type |
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
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: Whole 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 to 20 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
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Forms
1. Hematopathology Patient Information (T676)
2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
Whole blood, Bone marrow: 1 mL; Extracted DNA: 50 mcL at 20 ng/mcL; Other specimen types: See Specimen Required
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
| Gross hemolysis | Reject |
| Bone marrow core biopsies Paraffin shavings Moderately to severely clotted | Reject |
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | 10 days |
Useful For
Suggests clinical disorders or settings where the test may be helpful
Establishing the diagnosis of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia
Helping to distinguish lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia (low-grade B-cell lymphoma) from other subtypes
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
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
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
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
Provides information to assist in interpretation of the test results
Mutation present or not detected; an interpretive report will be issued.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
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 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.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Treon SP, Xu L, Yang G, et al. MYD88 L265P somatic mutation in Waldenstrom's macroglobulinemia. N Engl J Med. 2012;367(9):826-833
2. Varettoni M, Arcaini L, Zibellini S, et al. Prevalence and clinical significance of the MYD88 (L265P) somatic mutation in Waldenstrom's macroglobulinemia and related lymphoid neoplasms. Blood. 2013;121(13):2522-2528
3. Xu L, Hunter ZR, Yang G, et al. MYD88 L265P in Waldenstrom macroglobulinemia, immunoglobulin M monoclonal gammopathy, and other B-cell lymphoproliferative disorders using conventional and quantitative allele-specific polymerase chain reaction. Blood. 2013;121(11);2051-2058
4. Poulain S, Roumier C, Decambron A, et al. MYD88 L265P mutation in Waldenstrom macroglobulinemia. Blood. 2013;121(22);4504-4511
5. Gachard N, Parrens M, Soubeyran I, et al. IGHV gene features and MYD88 L265P mutation separate the three marginal zone lymphoma entities and Waldenstrom macroglobulinemia/lymphoplasmacytic lymphomas. Leukemia. 2013;27(1):183-189. doi: 10.1038/leu.2012.257
6. Ondrejka SL, Lin JJ, Warden DW, Durkin L, Cook JR, Hsi ED. MYD88 L265P somatic mutation: its usefulness in the differential diagnosis of bone marrow involvement by B-cell lymphoproliferative disorders. Am J Clin Pathol. 2013;140(3):387-394
Method Description
Describes how the test is performed and provides a method-specific reference
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)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Monday through Friday
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
81305
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| MYD88 | MYD88 L265P Gene Mutation Analysis | 82140-5 |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| MP021 | Specimen Type | 31208-2 |
| 36308 | Final Diagnosis | 82140-5 |
| 621251 | MYD88 Cancel | 77202-0 |