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NPM1 Mutation Analysis
MessagePCR and fragment analysis of exon 12 of the NPM1 gene to detect small insertion mutations specific to AML. Positive results are reported quantitatively as percent abnormal DNA. Testing may be performed on plasma to increase sensitivity.
Test Code
LAB6020
Alias/See Also
Nucleophosmin (Nucleolar Phosphoprotein B23)
CPT Codes
81310x1
Preferred Specimen
•Peripheral blood: 5 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.
•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
•Bone marrow: 2 mL in EDTA tube.
•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Instructions
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.
Methodology
Molecular
Report Available
7 days
Clinical Significance
Testing for NPM1 and other gene mutations in AML patients with intermediate-risk cytogenetic abnormalities can improve risk stratification. NPM1 mutations can predict favorable prognosis in AML with normal karyotype.
Performing Laboratory
Neogenomics Laboratories
