Polymerase Chain Reaction (PCR) with mutation detection by capillary electrophoresis.
Insertion mutations in the NPM1 gene occur in acute myeloid leukemia (AML) and predominantly associate with those cases demonstrating a normal karyotype. Testing for these mutations can aid in prediction of clinical outcome. Small insertion mutations in NPM1 exon 12 were first identified in AML due to the cytoplasmic mislocalization of the mutated NPM1 protein. The affected cases were referred to as NPM1c-positive, and were associated with CD34 negativity and the absence of recurrent cytogenetic abnormalities. NPM1 mutations are now considered the most common known genetic lesion in AML, occurring in about 30% of adult de novo cases, and 50-60% of AMLs with normal karyotype. NPM1 mutations in the absence of FLT3 mutations confer a more favorable prognosis in AML. This test detects virtually all reported NPM1 mutations.
Interpretive report provided.
The limit of detection of this assay is 5% mutation-bearing cells. Mutations may not be detected in samples with a neoplastic burden below this level.
2 - 7 days
- NPM-1 MUTATION ANALYSIS
- NPM1 Mut'n Detection Shadow
Collect blood or bone marrow in a lavender top tube. Refrigerate and send intact blood or bone marrow specimen within 48 hours of collection. Fresh tissue (preferably 0.5 cm3, sent in RPMI) and fresh aspirates or body fluids are acceptable. Refrigerate and send, preferably within 24 hours. Frozen tissue specimens – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fresh cell suspensions in RPMI should be refrigerated and sent, preferably within 48 hours. Frozen cell suspensions – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fixed cytogenetic cell suspensions or pellets in Carnoy’s fixative. Refrigerate and send. For formalin-fixed, paraffin-embedded tissue, a block containing an area with a high percentage of neoplastic cells is preferred. Unstained, UNBAKED slides (5-8, 10-micron slides; 10-15 if few neoplastic cells are present) with associated H&E stained slide are also acceptable. Decalcified tissue or other fixatives will be accepted and the assay attempted, however these may result in failed testing due to degraded nucleic acid. Both blocks and slides should be stored at room temperature.
By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes pathologist interpretation of results billed as a separate additional charge. This test is not available without interpretation.