Test Catalog

Test Id : MYD88

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MYD88, L265P, Somatic Gene Mutation, DNA Allele-Specific PCR, Varies

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Overview

Test Catalog

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.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

MYD88 L265P Gene Mutation Analysis

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

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

No

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.

5 to 8 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Blood, bone marrow: 2 weeks; Extracted DNA: 3 months

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

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.

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

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | PHP Pdf | CMS Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports