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Test Code: AMLP
Description: The AMLP gene encodes a receptor tyrosine kinase that regulates proliferation and differentiation of hematopoietic stem cells. An internal tandem duplication of the AMLP gene (FLT3-ITD) has been reported in nearly 25% of patients with AML. A further 7% of AML patients have a mutation of aspartic acid residue 835 (D835) in the activation loop of the second kinase domain, which leads to constitutive activation. Both AMLP mutations are associated with a poor prognosis. The NPM1 gene encodes nucleophosmin, a nucleolar phoshoprotein that constantly shuttles between the nucleolus and cytoplasm. Insertion mutations in exon 12 of NPM1 occur in approximately one-third of de novo AMLs and confer a favorable prognosis. This assay is based on fluorescent-PCR combined with restriction enzyme digestion, capillary electrophoresis and GeneScan analysis to detect and identify the FLT3-ITD and FLT3-D835 mutations, as well as exon 12 NPM1 insertion mutations, in a single reaction.


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