NPM1 Mutation Detection by RT-PCR, Quantitative

Casandra

Casandra Test Code AR01600Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3000066CPT Code 81310

NPM1 Mutation Detection by RT-PCR, Quantitative

Also known as: NPM1 QNT

Clinical Use

Order Test

Use

This test is designed to detect and quantify NPM1 mutant transcripts, a common recurrent genetic abnormality in acute myeloid leukemia (AML). It is particularly useful in identifying the presence of types A, B, and D mutations in NPM1, which are prevalent in a subset of AML patients. NPM1 mutations, particularly type A, occur in approximately one-third of all AML patients and confer a favorable prognosis in cytogenetically normal patients who lack FLT3 mutations. The test is significant for monitoring minimal residual disease (MRD), providing important prognostic information that can inform clinical decisions.

Special Instructions

Not provided.

Limitations

This assay may not detect rare NPM1 variants other than types A, B, or D. The limit of detection for type A mutants is approximately 1:100,000 cells (0.001%), but the sensitivity for types B and D has not been demonstrated. Negative results do not rule out NPM1 mutations below the detection threshold or other rare forms not covered by this test. Continuous monitoring is recommended only for patients with known NPM1-mutated AML.

Test Details

New York Approved