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JAK2V617F Mutation Analysis, Quantitative with Reflex to CALR Mutation Analysis, JAK2 Exon 12-15 Mutation Analysis and MPL Mutation Analysis
The Quantitative Real-Time PCR assay detects V617F mutation (c.1849 G>T) observed in approximately 95% polycythemia vera (pv), 55% essential thrombocythemia (ET) and 55% primary myelofibrosis (PMF). It is also infrequently present (3 to 5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia, and other atypical chronic myeloid disorders. A small percentage (~3.3%) of JAK2 mutation positive patients contain other non-V617F mutations within exon 12-15.
In vitro studies have indicated that this assay has an analytical sensitivity of 1% for the detection of cells containing the JAK2V617F mutation, 5% for the CALR, 15% for the JAK2 exon 12 to 15 and 10% to 20% for the MPL mutations in a background of non-mutant cells.
This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).
Total genomic DNA was extracted and subjected to TaqMan® real-time PCR amplification/detection; polymerase chain reaction (PCR); capillary electrophoresis; Sanger sequencing
The results should be interpreted in the context of all clinical and laboratory findings. No therapeutic action should be taken based solely on these results.
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 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 myel ofibrosis (PMF) and essential thrombocythemia (ET) at a frequency of approximately 5% and 1%, respectively. The S505 mutation is detected in patients with hereditary thrombocythemia.
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. Specimen should arrive at the testing laboratory within 48 hours of collection. Indicate the date and time of collection on test request form.
Ship at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C.
Causes for Rejection
Sample more than 72 hours old; frozen whole blood, serum or bone marrow; leaking tube; clotted blood or bone marrow; grossly hemolyzed specimen or otherwise visibly degraded or unsuitable; and specimens containing suspicious foreign material
Please provide indications for JAK2 testing and specimen type. Direct any questions regarding this test to customer service at 800-345-4363.