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NPM (Exon 12) Mutation Analysis, Cell-based
Test Code16158
CPT Codes
81310
Preferred Specimen
3 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
1 mL
Other Acceptable Specimens
Bone marrow collected in: EDTA (lavender-top) tube • Formalin-fixed, paraffin-embedded tissue block • Cell pellet
Instructions
Submission of whole blood is preferred: Follow standard whole blood collection procedure. Collect 3-5 mL whole blood samples in EDTA tube. Blood samples are shipped at room temperature or 4ºC. Do not freeze whole blood. Record the draw time and date on the tube. Ship immediately to maintain sample stability.
Cell pellet: This assay is also designed for the remnant cell pellet from Cytogenetics. The cell pellet usually fixed should be transported at room temperature or refrigerated to the laboratory as soon as possible. Please provide a copy of the Cytogenetics report.
Cell pellet: This assay is also designed for the remnant cell pellet from Cytogenetics. The cell pellet usually fixed should be transported at room temperature or refrigerated to the laboratory as soon as possible. Please provide a copy of the Cytogenetics report.
Transport Temperature
Whole blood, bone marrow, paraffin block: Room temperature
Cell pellet: Refrigerated (cold packs)
Cell pellet: Refrigerated (cold packs)
Specimen Stability
Whole blood and bone marrow
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Paraffin block
Room temperature: Indefinitely
Refrigerated: Indefinitely
Frozen: Unacceptable
Cell pellet
Room temperature: 7 days
Refrigerated: 30 days
Frozen: 30 days
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Paraffin block
Room temperature: Indefinitely
Refrigerated: Indefinitely
Frozen: Unacceptable
Cell pellet
Room temperature: 7 days
Refrigerated: 30 days
Frozen: 30 days
Methodology
Next Generation Sequencing
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Tues, Fri; Report available: 4 days
Reference Range
Not detected
Clinical Significance
Acute Myeloid Leukemia (AML) is a clinically heterogeneous disease. Recurrent cytogenetic abnormalities help define subgroups with different prognosis and identify patients whom might benefit from targeted therapies. However, almost half adults AML cases display a normal karyotype by conventional cytogenetics, and the clinical and molecular features of this large subgroup of patients are poorly understood. The NPM exon 12 mutation can serve as predictor in AML cases with a normal karyotype, good response to induction chemotherapy and as a marker for monitoring of minimal residual disease. NPM exon 12 mutations are AML-specific since they are not detected in normal cells or other neoplasms.
