b'AML -MRD TestsNPM1 MRD AssayClinical Information Test Name Indications for TestingMinimal residual disease (MRD) detection in patients withLabPMMs NPM1 MRD test is a NGS-based, targeted,NPM1 MRD assay Identify tumor-specific markers for post-treatmentleukemia is useful for the clinical management of disease,deep-sequencing assay that can be used tomonitoring and can facilitate the development of new therapies.detect NPM1 mutations that were previously identified inAssay Type Monitor and evaluate disease recurrencea primary sample. The sensitive assay reliably detects Mutations in the nucleophosmin (NPM1) gene representsequences present at 5 x 10 -5 . Next-Generation Sequencing (NGS)some of the most prevalent gene mutations in AML. 1NPM1 mutations predominantly occur in AML with normalMRD detection by Next-Generation Sequencing hasCLIA-validated assaycytogenetics and are of prognostic value, especially withindemonstrated utility in predicting clinical outcomes the context of FLT3 ITD mutations. Furthermore, becauseand in generating clinically actionable results, allowingMethod DescriptionNPM1 displays a homogeneous mutation pattern, this geneearly intervention, confirmation of disease status prior to represents an attractive target for MRD monitoring. 2 transplant, and increased confidence in remission status.To track and identify previously detected NPM1 mutations in post-treatment follow-up samples, a multiplex master mix targeting exon 12 on the NPM1 gene is used to amplify DNA extracted from a patient sample. Next-generation sequencing of the PCR products is used to identify DNA sequences specific to previously identified mutations detected at diagnosis. Bioinformatics tools facilitate the detection of these specific sequences present at an allelic sensitivity level of 5x10 -5 . Interpretation TurnaroundSpecimenShippingStorage Time Requirements Conditions ConditionsAn interpretive7 to 10 1-3 mL of peripheral Ambient or Cool; 2-8 C up report will bebusiness days blood in EDTA,do not freezeto 7 days prior issued indicating0.25-1 mL of bone marrow (peripheral blood orto testing whether NPM1bone marrow) MRD was detected in EDTA 1 g of previously Ambient or frozen on isolated DNAdry ice (isolated DNA) References1.Falini B. et al. (2005) Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med352:254266.2.Krnke J. et al. (2011) Monitoring of minimal residual disease in NPM1-mutated acute myeloid leukemia: a study from theGerman-Austrian acute myeloid leukemia study group. J Clin Oncol 29:2709-2716.40 LabPMM Services Catalog 2020|41'