CAT #: 14160019
NPM1 MRD Assay
This Research Use Only assay identifies insertions in exon 12 of the NPM1 gene using the Illumina® MiSeqTM platform.
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 and is usually stable over time and often detected at relapse3. 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 has an analytical sensitivity of 5 x 10-5 mutant alleles per total alleles.
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.
- Kelemen, K. (2022) Life. 12(1), 109.
- Falini, B. et al., (2005) N Engl J Med. 352:254-266.
- Falini, B. et al. (2020) Blood. 136:15.
This product is for Research Use Only; not for use in diagnostic procedures.
Warranty and Liability
Invivoscribe, Inc. (Invivoscribe®) is committed to providing the highest quality products. Invivoscribe® warrants that the products meet or exceed the performance standards described in the Instructions For Use, as to products with such an insert. If a product is covered by product specifications and does not perform as specified, our policy is to replace the product or credit the full purchase price. No other warranties of any kind, expressed or implied, are provided by Invivoscribe®. Invivoscribe® liability shall not exceed the purchase price of the product. Invivoscribe® shall have no liability for direct, indirect, consequential or incidental damages arising from the use, results of use, or inability to use its products; product efficacy under purchaser controlled conditions in purchaser’s laboratory must be established and continually monitored through purchaser defined and controlled processes including but not limited to testing of positive, negative, and blank controls every time a sample is tested. Ordering, acceptance, and use of product constitutes purchaser acceptance of sole responsibility for assuring product efficacy and purchaser agreement to the limitation of liability set forth in this paragraph.
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