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JAK2V617F Mutation Analysis, Qualitative, With Reflex to CALR Mutation Analysis and MPL Mutation Analysis
This test will assess for the JAK2V617F (exon 14) mutation first and will reflex to CALR mutation analysis and MPL mutation analysis when the JAK2V617F mutation is negative.
The JAK2V617F (exon 14) mutation analysis can be used in conjunction with bone marrow histology and cytogenetic analysis to assist in the diagnosis of myeloproliferative neoplasms (MPN). The JAK2V617F mutation is found in almost all patients with polycythemia vera (PV) and in nearly one-half of those with idiopathic myelofibrosis (IMF) and with essential thrombocythemia (ET).
The calcium-binding endoplasmic reticulin chaperone protein, calreticulin (CALR) is somatically mutated in approximately 70% of patients with JAK2-negative essential thrombocythemia (ET) and 60% to 88% of patients with JAK2-negative primary myelofibrosis. Only a minority of patients (approximately 8%) with myelodysplasia has mutations in the CALR gene. CALR mutations are rarely detected in patients with de novo acute myeloid leukemia, chronic myelogenous leukemia, lymphoid leukemia, or solid tumors. CALR mutations are not detected in polycythemia and appear to be mutually exclusive with JAK2 mutations and MPL mutations.
MPL (myeloproliferative leukemia virus oncogene homology) belongs to the hematopoietin superfamily and enables its ligand, thrombopoietin, to facilitate both global hematopoiesis and megakaryocyte growth and differentiation. MPL W515 mutations are present in patients with primary myelofibrosis (PMF) and essential thrombocythemia (ET) at a frequency of approximately 5% and 1%, respectively. The S505 mutation is detected in patients with hereditary thrombocythemia.
This assay has a sensitivity of approximately 5% for the detection of cells containing the JAK2 mutations and CALR mutations and 10% to 20% for MPL mutations in a background of nonmutant cells.
Allele-specific polymerase chain reaction (PCR); capillary electrophoresis; Sanger sequencing
Whole blood or bone marrow
3 to 5 mL whole blood or 1 to 2 mL bone marrow
3 mL whole blood or 1 mL bone marrow
Submit at room temperature. Specimens should arrive in the laboratory within 48 hours of collection. Indicate date and time of collection on the test request form.
Refrigerate. Ship specimen at room temperature. Specimen should arrive in the laboratory within 48 hours of collection. If specimen is to be stored prior to shipment, store at 2°C to 8°C. Indicate date and time of collection on the test request form.
Causes for Rejection
Sample greater than 72 hours old; clotted blood
Please direct any questions regarding this test to customer service at 800-345-4363.