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CAT #: 14160019

NPM1 MRD Assay

Assay Use

This Research Use Only assay identifies insertions in exon 12 of the NPM1 gene using the Illumina® MiSeqTM platform.

Product Details

  • Summary and Explanation of the Test


    The Nucleophosmin (NPM1) gene encodes for a protein involved in cellular activities that may relate to proliferative and growth-suppressive roles in the cell.1 Caused by an insertion of four nucleotides,  NPM1 is one of the most commonly mutated genes in acute myeloid leukemia (AML), occurring in roughly one third of primary AML in adults2. Roughly 50% of AML cases with an NPM1 mutation at diagnosis relapse during the first 3 years, in particular those with a concurrent FLT3-ITD mutation.3 Furthermore, in a study evaluating MRD prior to alloHCT, detection of mutated NPM1 and/or FLT3-ITD at an allele fraction ≥0.01% was associated with relapse and worse survival.4

    The development of a sensitive and specific assay to estimate the variant read frequency (VRF) of NPM1-mutant MRD represents a significant advancement for AML MRD studies.



    Invivoscribe’s NPM1 MRD Assay is an NGS-based, targeted, deep-sequencing assay that detects and monitors DNA sequences specific to identified mutations from the primary sample identified at diagnosis with an allelic sensitivity level of 5×10-5. This assay identifies and reports mutation variants ‘A,’ ‘B’, ‘D’, and ‘Other’ in subjects with no overt evidence of disease.  In addition, the NPM1 MRD Assay can be multiplexed with the FLT3 ITD MRD Assay to  improve throughput and reduce cost.

  • Principles of the Procedure

    Polymerase chain reaction (PCR) amplification for the detection of the NPM1 mutations is used on DNA isolated from the specimen. Barcoded primers target the area surrounding exon 12 of the NPM1 gene to amplify the sequences of interest. The PCR products are then purified and prepared for sequencing on the MiSeqTM  instrument. Sequencing results are interpreted by the NPM1 MRD Software, generating a TSV output.

    This assay detects insertions ≥4 base pairs and ≤20 base pairs between bases 13 and 25 of NPM1 exon 12 with an analytical sensitivity of 5 x 10-5 mutant alleles per total alleles.

  • Specimen Requirements

    This RUO assay tests genomic DNA isolated from peripheral blood or bone marrow. Assay sensitivity is dependent on DNA input and read count.  Minimum input quantity is 700 ng of high quality DNA.

    Baseline sample not required.



  1. Kelemen, K. (2022) Life. 12(1), 109.
  2. Papaemmanuil et al. (2016). N Engl J Med. 374(23): 2209–2221.
  3. Kronke et al. (2013). Blood. 122 (1): 100–108.
  4. Dillon et al. (2023). JAMA. 329(9):745-755.



This product is for Research Use Only; not for use in diagnostic procedures.

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