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 comparing the signal intensity of the mutation to the wild-type is reported in positive cases. Exon 12 of NPM1 is analyzed by PCR to detect small insertion mutations typical of 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)

specimen type and requirements
Peripheral blood: 2-3 mL in EDTA (purple-top) tube.
Bone marrow: 2-3 mL in EDTA (purple-top) tube.
Note: Use refrigerated cold pack for transport. Make sure cold pack is not in direct contact with specimen.

turnaround time
Global (TC & PC): 7-10 days

cpt code(s)
81245 (x1)

medicare moldx cpt code
Not applicable

regulatory classification
Laboratory developed test (LDT)

ordering option
Global (TC & PC)