MD NPM1 MRD Mutation Analysis (NGS)
Indication
The detection of low-level measurable residual disease (MRD) is helpful for managing leukemia patients and developing new therapies. One-third of primary acute myeloid leukemia (AML) cases in adults involve NPM1 mutation, which usually remains stable over time and is often only detected at relapse. The estimation of the variant read frequency (VRF) of NPM1-mutant MRD with a sensitive and accurate assay represents a significant advancement in AML MRD studies.
NPM1 MRD assay is a genomic DNA-based NGS deep sequencing assay that targets exon 12 of the NPM1 gene. This assay can identify NPM1 mutations variants 'A,' 'B,' 'D,' and 'others' at an allelic sensitivity level of 0.005%. This assay provides information on residual disease for inclusion in clinical decision making for the patient’s post-treatment care.
Methodology
Next-generation sequencing of PCR products is employed to identify DNA sequences corresponding to previously detected mutations identified at diagnosis.
Test Parameters
Clinical specimens were reviewed for following NPM1 transcripts.
Turnaround Time
10 days
Sample Requirements
- 10 ml peripheral blood (PB) in purple-top (lavender top) tube (EDTA Vacutainer), sent on wet ice
or - 2-5 ml of bone marrow aspirate (BM), sent on wet ice
CPT Codes
81310
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.