Hematologic Diseases

Detects the JAK2 V617F mutation, which is commonly found in myeloproliferative neoplasms (MPN). DNA is isolated and subjected to allele-specific polymerase chain reaction (PCR) amplification.

disease state indication(s)
Myeloproliferative neoplasms (MPN), polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF)

clinical use
The JAK2 V617F mutation, is found in approximately 95% of patients with polycythemia vera (PV) and approximately 50-60% of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). Detection of the JAK2 V617F mutation is included as one of the major diagnostic criteria for PV, ET, and PMF in the World Health Organization (WHO) classification of hematopoietic neoplasms.

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): 4 days

cpt code(s)
81270 (x1)

medicare moldx cpt code
Not applicable

regulatory classification
Laboratory developed test (LDT)

ordering option
Global (TC & PC)