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NPM1 (nucleophosmin) mutation is one of the most common recurring genetic lesions in acute myeloid leukemia (AML). This AML type frequently has myelomonocytic or monocytic features and typically presents de novo in older adults with a normal karyotype. Prevalence increases with age, occurring in 2% to 8% of childhood AML and 27% to 35% of adult AML. The most common mutation, insertion at nucleotide position 959 (exon 12), accounts for 90% to 95% of NPM1 mutations. NPM1 mutations in absence of FLT3-ITD identify a prognostically favorable subgroup.
This assay has a sensitivity to detect approximately the 5% population of cells containing the 4 base pair insertion at nucleotide position 959 (exon 12) in a background of nonmutant cells. This assay will not detect the mutation below the sensitivity of this assay or other NPM1 mutations.
This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary.
Polymerase chain reaction (PCR); capillary electrophoresis
Whole blood or bone marrow
3 to 5 mL whole blood or 1 to 2 mL bone marrow
3 mL whole blood or 1 mL bone marrow (Note: This volume does not allow for repeat testing.)
Submit at room temperature. Indicate date and time of collection on test request form.
Maintain specimen at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C.
Causes for Rejection
Quantity not sufficient for analysis; hemolysis; frozen specimen; clotted blood specimen
Please direct any questions regarding this test to customer service at 800-345-4363.
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|489140||NPM1 Mutation Analysis||489141||NPM1 Mutation Analysis Result:||54448-6|
|489140||NPM1 Mutation Analysis||489142||Background:||77202-0|
|489140||NPM1 Mutation Analysis||489139||Methodology:||49549-9|
|489140||NPM1 Mutation Analysis||489144||References:||75608-0|
|489140||NPM1 Mutation Analysis||489145||Director Review:||48672-0|