ARUP's Laboratory Test Directory

NPM1 Mutation by PCR and Fragment Analysis, Fluid : 0040174

Mnemonic: NPM1-F

Methodology: Polymerase Chain Reaction/ Fragment Analysis
Performed: Sun-Sat
Reported: 5-7 days
Specimen Required: Collect:  One 5 mL lavender (EDTA) or pink (K2EDTA) whole blood, or one 3 mL (EDTA) bone marrow.

Transport:  5 mL whole blood or 3 mL bone marrow at 2-8°C.

Pediatric Collection/Transport:  1 mL whole blood or bone marrow.

Stability:  Ambient:24 hours; Refrigerated: 5 days; Frozen: Unacceptable
Interpretive Data: NPM1 mutations are commonly seen in acute myeloid leukemia and are associated with monocytic differentiation.  In cytogenetically normal AML patients, mutated NPM1 correlates with favorable prognosis and good treatment response, but only in the absence of a FLT-3 mutation.

The above text should be added to the first paragraph of the existing interpretive data after the second sentence.  The paragraph should then read

Total DNA is extracted and a fragment of exon 12 of NPM1 is amplified by PCR and analyzed by capillary electrophoresis.  Mutations of the NPM1c positive phenotype represent small insertions and are detected based on the resulting increase in length of the mutant PCR product.  NPM1 mutations are commonly seen in acute myeloid leukemia and are associated with monocytic differentiation.  In cytogenetically normal AML patients, mutated NPM1 correlates with favorable prognosis and good treatment response, but only in the absence of a FLT-3 mutation. This test detects all reported NPM1c positive mutations and can detect a mutation in a sample containing as little as 5% AML cells.  Each assay includes a positive control containing a mutation and a negative control lacking any mutation.

Please refer to Statement B in the Compliance Statements section in the front of the Laboratory Test Directory.
CPT Code(s): 83891 Isolation; 83898 Amplification; 83896 Nucleic acid probe; 83909 Capillary electrophoresis; 83912 Interpretation and report.  Additional CPT code modifiers may be required for procedures performed to test for oncologic disorders.
 
 

 

 

 
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