NPM1 Mutational Analysis (Exon 12)



Heterozygous mutations of the nucleophosmin or NPM1 gene have been identified in 50-60% of adult AML cases with normal karyotype and are associated with favorable prognosis in absence of a co-existing FLT3 mutation. The 2008 WHO classification has propsed a tentative category of AML with mutated NPM1.  The test can be used to detect mutation in NPM1 for diagnostic and prognostic stratification of AML cases.


PCR-based amplification followed by amplicon sizing using Genescan.

Test Parameters

This assay will detect mutations in exon 12 of the NPM1 gene. The sensitivity of detection is approximately 2.5%.

Turnaround Time

Five to 10 working days

Sample Requirements

  • 10 ml peripheral blood in purple top tube (EDTA Vacutainer), sent on wet ice

  • 2-5 ml of bone marrow aspirate, sent on wet ice

CPT Codes


The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.