Test in Focus: Optimizing leukemia treatment with enhanced genetic mutation detection

Mayo Clinic Laboratories has developed an assay that offers enhanced detection of the NPM1 genetic mutation that is present in about 30% of patients with acute myeloid leukemia, or AML. The NPM1 mutation has many forms, and current RNA-based quantitative testing detects only those that are most common. Mayo Clinic Laboratories’ new NPM1Q assay can detect essentially all known NPM1 mutant forms, including the rare ones, which helps to optimize treatment for patients with leukemia.

The NPM1Q assay is composed of two complementary parts:

  • An RNA-based, highly sensitive reverse-transcription polymerase chain reaction test that quantifies the most common NPM1 mutant types (A, B, and D forms).
  • A DNA-based qualitative fragment analysis that detects all other NPM1 mutant forms.

Learn more by listening to this “Test in Focus” episode of the “Answers From the Lab” podcast.

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Luci Gens

Luci Gens is a senior marketing specialist. She joined Mayo Clinic in 2022 and has over ten years of experience in hospital-based marketing and communications.