Hematologic Diseases

Detects FLT3 and NPM1 mutations, which are commonly found in acute myeloid leukemia (AML). FLT3 ITD and TKD regions are analyzed by polymerase chain reaction (PCR) and fluorescent fragment size analysis. The signal ratio of the FLT3 ITD region compares the signal intensity of the mutation to the wild-type. Exon 12 of NPM1 is analyzed by PCR and fluorescent fragment size analysis to detect small insertion mutations specific to AML.

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

clinical use
FLT3 ITD mutations are associated with an unfavorable risk status in cytogenetically normal acute myeloid leukemia (AML). There is controversy as to whether FLT3 TKD mutations carry an equally unfavorable prognosis. Detection of the FLT3 ITD or TKD mutation is associated with an increased likelihood of repsonse to FLT3 inhibitors. AML with mutated 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.

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

Note: 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)
81245 (x1)
81246 (x1)
81310 (x1)

medicare moldx cpt code
81479 (x1)

regulatory classification
Laboratory developed test (LDT)

ordering option
Global