NPM1 Mutation Analysis NPM1Q

Synonyms

Allscripts (AEHR) Order Name

NPM1 Mutation Analysis

Sunrise Clinical Manager (SCM) Order 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 Type

Blood, Bone Marrow

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

Result Interpretation

See Reference Report

Forms