Test Catalog

Test Id : MPLVS

MPL Exon 10 Mutation Detection, Varies

Useful For
Suggests clinical disorders or settings where the test may be helpful

Aiding in the distinction between a reactive cytosis and a myeloproliferative neoplasm

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

Sanger Sequencing

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

MPL Exon 10 Mutation Detection, V

Aliases
Lists additional common names for a test, as an aid in searching

MPL S505

MPL W515

MPLB

MPLM

MPLVA

Myeloproliferative leukemia virus oncogene

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Specimen Type
Describes the specimen type validated for testing

Varies

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:

 

Specimen Type: Peripheral blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Specimen Volume: 3 mL

Collections Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube. Do not aliquot.

3. Label specimen as blood.

Specimen Stability: Ambient (preferred)/Refrigerate

 

Specimen Type: Bone marrow

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Specimen Volume: 2 mL

Collections Instructions:

1. Invert several times to mix bone marrow.

2. Send specimens in original tube. Do not aliquot.

3. Label specimen as bone marrow.

Specimen Stability: Ambient (preferred)/Refrigerate

 

Specimen Type: Extracted DNA from blood or bone marrow

Container/Tube: 1.5- to 2- mL tube

Specimen Volume: Entire specimen

Collection Instructions: Label specimen as extracted DNA from blood or bone marrow and provide indication of volume and concentration of DNA.

Specimen Stability Information: Frozen (preferred)/Refrigerated/Ambient

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

1. Hematopathology Patient Information (T676) in Special Instructions

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

Blood, Bone Marrow: 1 mL

Extracted DNA: 50 mcL at 20 ng/mcL concentration

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis Reject
Bone marrow biopsies
Slides
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 (preferred) 7 days

Useful For
Suggests clinical disorders or settings where the test may be helpful

Aiding in the distinction between a reactive cytosis and a myeloproliferative neoplasm

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

DNA sequence mutations in exon 10 of the myeloproliferative leukemia virus oncogene (MPL) have been detected in approximately 5% of patients with primary myelofibrosis (PMF) and essential thrombocythemia (ET), which are hematopoietic neoplasms classified within the broad category of myeloproliferative neoplasms. MPL codes for a transmembrane tyrosine kinase and the most common MPL variants are single base pair substitutions at codon 515. These variants have been shown to promote constitutive, cytokine-independent activation of the JAK/STAT signaling pathway and contribute to the oncogenic phenotype. At least 8 different MPL exon 10 variants have been identified in PMF and ET to date, and variants outside of exon 10 have not yet been reported. The vast majority of MPL variants have been found in specimens testing negative for the most common variant identified in myeloproliferative neoplasms, JAK2 V716F, although a small number of cases with both types of variants have been reported. MPL variants have not been identified in patients with polycythemia vera, chronic myelogenous leukemia, or other myeloid neoplasms.

 

Identification of MPL variants can aid in the diagnosis of a myeloproliferative neoplasm and is highly suggestive of either PMF or ET.

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.

An interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

The results will be reported as 1 of 2 states:

-Negative for MPL exon 10 variant

-Positive for MPL exon 10 variant

If the result is positive, a description of the variant at the nucleotide level and the altered protein sequence is reported.

 

Positive variant status is highly suggestive of a myeloproliferative neoplasm but must be correlated with clinical and other laboratory features for a definitive diagnosis. Negative variant status does not exclude the presence of a myeloproliferative or other neoplasm.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

A positive result is not specific for a particular diagnosis and clinicopathologic correlation is necessary in all cases.

 

A negative result does not exclude the presence of a myeloproliferative or other neoplasm.

Supportive Data

Analytical sensitivity is approximately 20%, meaning there must be about 20% of the altered DNA in the specimen for reliable detection.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Defour JP, Chachoua I, Pecquet C, Constantinescu SN: Oncogenic activation of MPL/thrombopoietin receptor by 17 mutations at W515: implications for myeloproliferative neoplasms. Leukemia. 2016; 30:1214-1216. doi: 10.1038/leu.2015.271

2. Pikman Y, Lee BH, Mercher T, et al: MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med. 2006;3:e270

3. Pardanani A, Levine R, Lasho T, et al: MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood. 2006;15:3472-3476

4. Kilpivaara O, Levine RL: JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and science. Leukemia. 2008;22:1813-1817. doi: 10.1038/leu.2008.229

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

Genomic DNA is extracted from the blood or bone marrow sample and the MPL exon 10 amplified using standard polymerase chain reaction. The entire exon 10 sequence is obtained using Sanger sequencing with analysis on an automated genetic analyzer.(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

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 Regional Manager. 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. This test 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.

81339-MPL (myeloproliferative leukemia virus oncogene, thrombopoietin receptor, TPOR) (eg, myeloproliferative disorder), exon 10 sequence

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
MPLVS MPL Exon 10 Mutation Detection, V 62948-5
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.
MP051 Specimen Type 31208-2
602600 Interpretation 69047-9
602601 Signing Pathologist 19139-5

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 | Create a 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