Days Set Up
Monday - Friday
Analytic Time

2 - 7 days

MiChart Code
NPM1 Mutation
Soft Order Code
NPM1

Test Updated:

Synonyms

NPM1
NPM-1 MUTATION ANALYSIS
NPM1S
MLABEL
NPM1 Mut'n Detection Shadow

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MLabs provides all the supplies necessary for the collection of specimens.

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Test Overview

Test Methodology

Polymerase Chain Reaction (PCR) with mutation detection by capillary electrophoresis.

Test Usage

Insertion mutations in the NPM1 gene occur in acute myeloid leukemia (AML) and predominantly associate with those cases demonstrating a normal karyotype. Testing for these mutations can aid in prediction of clinical outcome. Small insertion mutations in NPM1 exon 12 were first identified in AML due to the cytoplasmic mislocalization of the mutated NPM1 protein. The affected cases were referred to as NPM1c-positive, and were associated with CD34 negativity and the absence of recurrent cytogenetic abnormalities. NPM1 mutations are now considered the most common known genetic lesion in AML, occurring in about 30% of adult de novo cases, and 50-60% of AMLs with normal karyotype. NPM1 mutations in the absence of FLT3 mutations confer a more favorable prognosis in AML. This test detects virtually all reported NPM1 mutations.

Reference Range

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Specimen Requirements

Collection Instructions

Collect blood or bone marrow in a lavender top tube. Refrigerate and send intact blood or bone marrow specimen within 48 hours of collection. Fresh tissue (preferably 0.5 cm3, sent in RPMI) and fresh aspirates or body fluids are acceptable. Refrigerate and send, preferably within 24 hours. Frozen tissue specimens – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fresh cell suspensions in RPMI should be refrigerated and sent, preferably within 48 hours. Frozen cell suspensions – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fixed cytogenetic cell suspensions or pellets in Carnoy’s fixative. Refrigerate and send. For formalin-fixed, paraffin-embedded tissue, a block containing an area with a high percentage of neoplastic cells is preferred. Unstained, UNBAKED slides (5-8, 10-micron slides; 10-15 if few neoplastic cells are present) with associated H&E stained slide are also acceptable. Decalcified tissue or other fixatives will be accepted and the assay attempted, however these may result in failed testing due to degraded nucleic acid. Both blocks and slides should be stored at room temperature.

Lavender Top Tube
Normal Volume
5 mL EDTA (lavender) whole blood; 3 mL EDTA (lavender) bone marrow; Fresh/frozen tissue and fresh aspirates or body fluids; Fresh/frozen cells in RPMI; Fixed cytogenetic cell suspensions or pellets in Carnoy’s fixative; Formalin-fixed, paraffin-embedded tissue. Extracted DNA is also acceptable if extracted in a CLIA certified laboratory.
Minimum Volume
 

Billing Information

CPT Code
81310
Pro Fee Code
 
Insurance Auth Info
 
LOINC
 

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Our High Standard

Quality that sets us apart

As the reference laboratory division of Michigan Medicine's Department of Pathology, MLabs shares the institution's commitment to applying established quality principles to clinical laboratory testing. Like other large organizations in complex, consequential fields, we rely on an established approach to monitor quality throughout the testing process.