MPL Exon 10 Mutation Detection, Bone Marrow
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Aiding in the distinction between a reactive cytosis and a myeloproliferative neoplasm
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
See Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation in Special Instructions.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Mutation Detection in DNA Using Sanger Sequencing
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
MPL Exon 10 Mutation Detection, BM
myeloproliferative leukemia virus oncogene
myeloproliferative leukemia virus oncogene
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Specimen must arrive within 168 hours of collection.
Preferred: Lavender top (EDTA)
Specimen Volume: 2 mL
1. Invert several times to mix bone marrow.
2. Send specimen in original tube.
Additional Information: Collection date is required.
1. Hematopathology Patient Informations Sheet (Supply T676) in Special Instructions
2. If not ordering electronically, submit a Hematopathology/Molecular Oncology Request Form (Supply T241) with the specimen.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Mild OK; Gross reject
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
|Bone Marrow||Ambient (preferred)||7 days|
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 mutations are single base pair substitutions at codon 515. These mutations 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 mutations have been identified in PMF and ET to date, and mutations outside of exon 10 have not yet been reported. The vast majority of MPL mutations have been found in specimens testing negative for the most common mutation identified in myeloproliferative neoplasms, JAK2 V716F, although a small number of cases with both types of mutations have been reported. MPL mutations have not been identified in patients with polycythemia vera, chronic myelogenous leukemia, or other myeloid neoplasms.
Identification of MPL mutations 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.
The results will be reported as 1 of 2 states:
-Negative for MPL exon 10 mutation
-Positive for MPL exon 10 mutation
If the result is positive, a description of the mutation at the nucleotide level and the altered protein sequence is reported.
Positive mutation status is highly suggestive of a myeloproliferative neoplasm, but must be correlated with clinical and other laboratory features for a definitive diagnosis. Negative mutation 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.
Analytical sensitivity is approximately 20% meaning there must be about 20% of the mutated DNA in the specimen for reliable detection.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Pikman Y, Lee BH, Mercher T, et al: MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. FLoS Med 2006;3:e270
2. 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
3. Kilpivaara O, Levine RL: JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and science. Leukemia 2008;22:1813-1817
Method Description Describes how the test is performed and provides a method-specific reference
Genomic DNA is extracted from bone marrow and the MPL exon 10 amplified using standard PCR. The entire exon 10 sequence is obtained using Sanger sequencing (BigDye terminator V1.1 cycle sequencing kid from Applied Bioscience) with analysis on an automated genetic analyzer.(Applied Biosystems 3130; unpublished Mayo method)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Monday through Friday
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
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 The location of the laboratory that performs the test
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's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) 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 U.S. 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 Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
81403-MPL (myeloproliferative leukemia virus oncogene, thrombopoietin receptor, TPOR) (eg, myeloproliferative disorder), exon 10 sequence
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
|Result ID||Reporting Name||LOINC Code|