Hematologic Diseases

Exon 12 of NPM1 is analyzed by polymerase chain reaction (PCR) and fluorescent fragment size analysis to detect small insertion mutations specific to AML.

disease state indication(s)
Acute myeloid leukemia (AML)

clinical use
NPM1 is categorized as an AML with recurrent genetic abnormality in the World Health Organization (WHO) classification. NPM1 mutations are associated with a favorable risk status in the absence of FLT3 ITD mutations in cytogenetically normal AML. [1]

References:
1. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines): Acute Myeloid Leukemia. Version 3.2017

methodology/product platform
Polymerase chain reaction (PCR) / Fragment Analysis (FA)

specimen type and requirements
Preferred:
Bone marrow: 2-3 mL in EDTA (purple-top) tube
Peripheral blood: 2-3 mL in EDTA (purple-top) tube

Acceptable Alternative:
Bone marrow: 2-3 mL in sodium heparin (green-top) tube
Peripheral blood: 2-3 mL in sodium heparin (green-top) tube

Use refrigerated cold pack for transport. Make sure cold pack is not in direct contact with specimen.
DO NOT FREEZE.

turnaround time
Global: 5-7 days

cpt code(s)
81310 (x1)

medicare moldx cpt code
Not applicable

regulatory classification
Laboratory developed test (LDT)

ordering option
Global