NPM1 Mutational Analysis (Exon 12), PCR
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 proposed 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 primers labeled with fluorescent tags.
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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