Nucleophosmin (NPM1) Mutation Analysis

Synonyms

• LAB12061
• NPM1 MUTATION ANALYSIS
• NPM1Q
• Nucleophosmin Mutation Analysis

Cerner Name

NPM1 Mutation Analysis

Clinical Info

As a prognostic indicator in patients with newly diagnosed acute myelogenous leukemia with normal karyotype and no FLT3 variant and as a leukemia-specific marker of minimal residual disease.
Testing Algorithm
Both DNA and RNA are extracted. The assay is composed of 2 parts, an RNA-based, sensitive quantitative reverse transcription real-time polymerase chain reaction (RT-PCR) that detects and quantifies the most common altered NPM1 messenger RNA transcripts (A, B, D forms) in acute myeloid leukemia (AML), and a DNA-based qualitative NPM1 exon 12 variant screening by fragment analysis that detects essentially all altered forms reported in AML, including the rare non-A, B, D forms (with lower sensitivity at the DNA level).

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous Bone Marrow Bone Marrow Aspirate

Specimen Types

Aspirate Blood Bone Marrow

Specimen Volume

Container

Lavender Top Tube

Collection Instructions

Container/Tube: Lavender Top (EDTA) Tube or Yellow ACD-B tube
Specimen: 10 mL Whole Blood ( 8 mL min) or 4 mL Bone Marrow ( 2 mL min)
Transport Temperature: Refrigerated

Transport Instructions

Refrigerated

Specimen Stability

3 Days Room Temperature
5 Days Refrigerated

Methodology

RNA: Reverse-Transcription Quantitative PCR (RT-qPCR)
DNA: Polymerase Chain Reaction (PCR) with Fragment Analysis by Capillary Gel Electrophoresis

Days Performed

Monday - Friday

Performing Laboratory

Mayo Medical Laboratories

CPT

81310

PDM

235439

Only Orderable at Locations:

Orderable Everywhere

Results

Result Interpretation

Forms