NPM1 Mutation Detection by RT-PCR, Quantitative

Last Literature Review: September 2026 Last Update:
  • Use to detect and quantitate NPM1 mutant transcripts (type A, B, or D)
  • Use to monitor for MRD in patients with a known history of NPM1 mutation (type A, B, or D) and assess the risk of disease relapse

Testing for NPM1 mutations may be useful in the evaluation of acute myeloid leukemia (AML) to aid in classification, inform prognosis, and guide therapeutic decision-making. NPM1 testing may be used to monitor for minimal residual disease (MRD).  This test uses reverse transcription polymerase chain reaction (RT-PCR) to detect if a mutant transcript is present.

Genetics

NPM1 mutant type A, type B, and type D variant

Test Interpretation

Analytic Sensitivity/Specificity

Limit of detection: 1/100,000 NPM1-mutated cells (type A)

Limitations

  • This assay does not identify which transcript is detected.
  • A negative result does not exclude NPM1 mutations other than types A, B, and D.
  • Levels can only be reliably compared if the same laboratory and same sample type are used.

References