Test Catalog

Test Id : NPMFM

Not Orderable

Nucleophosmin (NPM1) Mutation Analysis, Bone Marrow

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Overview

Test Catalog

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

Detection of nucleophosmin (NPM1) mutation provides information for prognosis in patients with newly diagnosed acute myeloid leukemia. NPM1 mutation with absence of FLT3-ITD (FMS-like tyrosine kinase-3 internal tandem duplication) is associated with a better prognosis. This RNA based quantitative test detects about 95% of NPM1 mutations and can be used for monitoring measurable residual disease.

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

Quantitative Reverse Transcription-Polymerase Chain Reaction (RT-PCR)

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

No

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

NPM1 Mutation Analysis, BM

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

NPM1

Nucleophosmin Mutation Analysis

Specimen Type
Describes the specimen type validated for testing

Bone Marrow

Shipping Instructions

Specimen must arrive within 72 hours of collection. Collect and package specimen as close to shipping time as possible. Specimens greater than 3 days old at the time of receipt will be considered unacceptable.

Necessary Information

The following information is required:

1. Pertinent clinical history including if the patient has a diagnosis of chronic myeloid leukemia or other BCR/ABL-1-positive neoplasm

2. Date of collection

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Container/Tube:

Preferred: Lavender top (EDTA)

Specimen Volume: 3 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.

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

1 mL

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

Gross hemolysis Reject
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
Bone Marrow Refrigerated (preferred) 72 hours
Ambient 72 hours

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

Detection of nucleophosmin (NPM1) mutation provides information for prognosis in patients with newly diagnosed acute myeloid leukemia. NPM1 mutation with absence of FLT3-ITD (FMS-like tyrosine kinase-3 internal tandem duplication) is associated with a better prognosis. This RNA based quantitative test detects about 95% of NPM1 mutations and can be used for monitoring measurable residual disease.

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

Acute myeloid leukemia (AML) is a heterogeneous disease of the blood and bone marrow, characterized by clonal expansion of hematopoietic stem and progenitor cells with impaired differentiation capacity, leading to bone marrow failure. Nucleophosmin (NPM1) mutated AML represents a distinct entity in the World Health Organization classification. NPM1 mutation occurs in 20% to 30% of AML cases. Most of these patients have a normal karyotype. Detection of an NPM1 mutation without coexisting FLT3-ITD (FMS-like tyrosine kinase-3 internal tandem duplication) suggests a more favorable prognosis. More than 50 different heterozygous mutations have been identified in NPM1 in exon 12. Three mutation types, A, B, and D, account for about 95% of the NPM1 mutations. NPM1 mutation detection has been utilized in monitoring measurable minimal residual disease.

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

Nucleophosmin (NPM1) mutation occurs in 20% to 30% of acute myeloid leukemia (AML) cases. AML with NPM1 mutation is a subtype of AML classification. Detection of an NPM1 mutation with absence of FLT3-ITD (FMS-like tyrosine kinase-3 internal tandem duplication) is associated with better outcomes, increased complete remission, and improved overall survival in AML. Concurrent NPM1 and FLT3-ITD mutations confer intermediate risk in AML.

 

Three mutation types, A, B, and D account for about 95% of the NPM1 mutations in AML. This RNA based quantitative test detects the transcripts of the type A, B, and D mutations and provides a useful target for measurable residual disease (MRD) monitoring.

 

The continued presence of NPM1 mutant transcripts is associated with a higher chance of relapse than those with non-detectable NPM1 mutant transcripts. Minimal residual disease (MRD) status prior to allogeneic hematopoietic stem cell transplant has been shown to be a good predictor of outcome.

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

Because of the design of this assay, a very small number of NPM1 alterations at diagnosis may not be detected by the more targeted quantitative polymerase chain reaction component.

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

1. Heath EM, Chan SM, Minden MD, Murphy T, Shlush LI, Schimmer AD. Biological and clinical consequences of NPM1 mutations in AML. Leukemia. 2017;31(4):798-807

2. Falini B, Sciabolacci S, Falini L, Brunetti L, Martelli MP. Diagnostic and therapeutic pitfalls in NPM1-mutated AML: notes from the field. Leukemia. 2021;35(11):3113-3126

3. Hindley A, Catherwood MA, McMullin MF, Mills KI. Significance of NPM1 Gene Mutations in AML. Int J Mol Sci. 2021;22(18):10040

4. Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36(7):1703-1719

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

The assay is performed using an automated platform, GeneXpert (Cepheid). Bone marrow sample is processed, added to an individual sample cartridge, and loaded onto the GeneXpert machine. It quantifies mutant nucleophosmin (NPM1) mRNA transcript types A, B, and D in exon 12 and reports the percent ratio of mutant NPM1 to ABL1 endogenous control mRNA transcript.(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.

1 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

2 weeks

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

Jacksonville

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.

81310

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
NPMFM NPM1 Mutation Analysis, BM 75034-9
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.
620655 Final Diagnosis: 59465-5
620707 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 | 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