AML - NPM1 MRD Assay
Measurable Residual Disease
Detection of NPM1 Mutations
Indications for Testing
Post-treatment monitoring
Stratify risk for disease recurrence

Clinical Information
Measurable residual disease (MRD) detection in patients with leukemia is usefulfor the clinical management of disease, and can facilitate the developmentof new therapies.

Identify tumor-specific markers
for post-treatment for monitoring

Interpretation

Mutations in the nucleophosmin (NPM1) gene represent some of the mostprevalent gene mutations in AML.1 NPM1 mutations predominantly occur
in AML with normal cytogenetics and are of prognostic value, especially within
the context of FLT3 ITD mutations. Furthermore, because NPM1 displays
a homogeneous mutation pattern, this gene represents an attractive targetfor MRD monitoring.2

An interpretive report will beissued indicating whether NPM1
MRD was detected.

LabPMM’s NPM1 MRD test* is a NGS-based, targeted, deep-sequencing assaythat can be used to detect NPM1 mutations that were previously identified in a
primary sample. The sensitive assay reliably detects sequences present at 5 x 10-5.

1-3 mL of peripheral blood in EDTA

MRD detection by Next-Generation Sequencing has demonstrated utility
in predicting clinical outcomes and in generating clinically actionable results,
allowing early intervention, confirmation of disease status prior to transplant,
and increased confidence in remission status.

1 µg of previously isolated DNA

Specimen Requirements
0.25-1 mL of bone marrow in EDTA

Turnaround Time
7 to 10 business days

Workflow Overview
Sample Receipt Peripheral blood, bone marrow aspirate, or DNA
NGS Testing, CLIA-Validated Assay Sensitivity 5x10-5Turnaround Time 7 to 10 Business Days

Shipping Conditions
Ambient or Cool; do not freeze(peripheral blood or bone marrow)

Ambient or frozen on dry ice(isolated DNA)

Results Report with Scientific Interpretation

Specimen Stability*NPM1 testing is covered by patents licensed to Invivoscribe by TrovaGene, Inc.

2-8 °C up to 7 days prior to testing

CPT Codes
PLA Code: 0049U

Unparalleled Sensitivity
The NGS-based NPM1 MRD assay offered byLabPMM can generate clinically actionable
results, aid in early intervention, and can help
predict clinical outcomes. As shown in below,
the assay provides excellent linearity with thedetection limit down to 5x10-5.

Detected Mutation/Total Reads (Log10)

0-1-2-3y = 1.0218x - 0.0181-4

R2 = 0.9681-5-6-7-6-5-4-3-2-1

Expected Mutation/Total Reads (Log10)

DNA from a cell line with a characterized NPM1 mutation (4 bp insertion) was serially diluted into
DNA from a wild-type NPM1 cell line and tested with the NPM1 MRD Assay. Input DNA quantity was700 ng per dilution point. The NPM1 MRD Data Analysis Software was used to analyze the data.

Excellent ConcordanceConcordance between NPM1 MRD Assayand a Reference Assay (Neat)

Eight AML samples were evaluated using theNGS NPM1 MRD assay and compared to acapillary electrophoresis and a NGS panel assay(MyMRD®). Mutations were detected in 5 of 8samples tested and results were 100% concordant
to both reference assays. Selected NPM1 positive
AML samples were serially diluted and expectedvariant read frequency (VRF) was detected down
to 0.3% with the NPM1 MRD Assay.

504540

VRF (%)

35302520151050

AML-04

AML-05

AML-09NPM1

AML-12

AML-18

MyMRD

References
1. Falini, B. et al. (2005) N Engl J Med 352:254–266.
2. Krönke, J. et al. (2011) J Clin Oncol 29:2709-2716.

invivoscribe.com/clinical-services
Tel +1 858.224.6666 | Fax +1 858.408.3964
support@labpmm.com

M-0151 Rev 01 March 2024