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.
This assay will detect mutations in exon 12 of the NPM1 gene. The sensitivity of detection is approximately 2.5%.
Five to 10 working days
- 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
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