Test ID: NPM1
Nucleophosmin (NPM1) Mutation Analysis
NY State Approved 
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
As a prognostic indicator in patients with newly diagnosed acute myelogenous leukemia with normal karyotype and no FLT3 mutation
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
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
Method Name A short description of the method used to perform the test
DNA Polymerase Chain Reaction (PCR) with Fragment Analysis by Capillary Gel Electrophoresis
(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
Aliases Lists additional common names for a test, as an aid in searching
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.
The following information is required:
1. Pertinent clinical history
2. Clinical or morphologic suspicion
3. Date of collection
4. Specimen source
Forms:
1. Hematopathology Patient Information Sheet (Supply T676) in Special Instructions
2. If not ordering electronically, please submit a Hematopathology/Molecular Oncology Request Form (Supply T241) with the specimen.
Specimen must arrive within 168 hours of collection.
Submit only 1 of the following specimens:
Specimen Type: Blood
Container/Tube: Lavender top (EDTA) or yellow top (ACD solution B)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
3. Label specimen as blood.
Specimen Type: Bone marrow
Container/Tube: Lavender top (EDTA) or yellow top (ACD solution B)
Specimen Volume: 2 mL
Collection Instructions:
1. Invert several times to mix bone marrow.
2. Send specimen in original tube.
3. Label specimen as bone marrow.
Specimen Type: Extracted DNA from blood or bone marrow
Container/Tube: 1.5- to 2-mL tube with indication of volume and concentration of the DNA
Specimen Volume: Entire specimen
Collection Instructions: Label specimen as extracted DNA from blood or bone marrow.
Specimen Type: Paraffin-embedded bone marrow aspirate clot
Container/Tube: Paraffin block
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.
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Hemolysis | Mild OK; Gross reject |
| Lipemia | NA |
| Icterus | NA |
| Other | Bone marrow biopsies, slides, or paraffin shavings |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Ambient (preferred) | 7 days |
| Refrigerated | 7 days |
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Acute myelogenous leukemia (AML) is a heterogenous group of neoplasms. While cytogenetic aberrations detected at the time of diagnosis are the most commonly used prognostic feature, approximately 20% of AML cases show a normal karyotype, which is considered an intermediate-risk feature. Within this group, FLT3 mutations are considered indicators of poor prognosis. However, in the absence of a FLT3 mutation, the presence of a nucleophosmin (NPM1) mutation is associated with good prognosis. Thus, in patients with newly diagnosed AML, those with normal karyotype, no FLT3 mutation, and a NPM1 mutation are considered to have a better prognosis than patients in the same group with neoplasms lacking a NPM1 mutation.
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 assay will be interpreted as positive or negative for the NPM1 mutation. In patients with newly diagnosed acute myelogenous leukemia, a normal karyotype, and no FLT3 mutation, the presence of NPM1 mutation is an indicator of good prognosis.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
The test is designed to be used at the time of diagnosis when the mutation burden is high. The sensitivity is not adequate for monitoring patients during therapy as a test of minimal residual disease.
At this time, there is no clinical indication for assessing NPM1 mutation status at any time other than initial diagnosis.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Thiede C, Koch S, Creutzig E, et al: Prevalence and prognostic impact of NPM1 mutations in 1485 adult patients with acute myeloid leukemia (AML). Blood 2006;107:4011-4020
2. Falini B, Mecucci C, Tiacci E, et al: Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med 2005;352(3):254-266
Method Description Describes how the test is performed and provides a method-specific reference
DNA is extracted from blood or bone marrow and a PCR assay is performed using primers that amplify a fragment of NPM1 DNA containing the region susceptible to insertion mutation. One of the PCR primers contains a fluorescent tag. The amplified fragments are separated by capillary electrophoresis on an ABI3130 genetic analyzer. In unmutated DNA, the PCR fragments obtained are 187 base pairs (bp). PCR fragments containing an insertional mutation are longer, usually 191 bp, as the majority of mutations are 4 bp insertions.(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: 3 p.m.
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.
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 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.
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.
81401-NPM1/ALK (t(2;5)) (eg, anaplastic large cell lymphoma), translocation analysis
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 |
|---|---|---|
| MP011 | Specimen Type | In Process |
| 19729 | Final Diagnosis: | 34574-4 |
External
link
PDF
document
Excel
document
Word
document