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JAK2V617F Mutation Analysis, Qualitative, With Reflex to JAK2 Exon 12-15 Mutation Analysis
- Janus Kinase 2 V617F Mutation Detection Reflex JAK2 Exon 12-15 Mutation Detection
This test will assess for the JAK2V617F (exon 14) mutation first and will reflex to JAK2 exon 12 to 15 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).
A small percentage (~3.3%) of JAK2 mutation positive patients contain other non-V617F mutations within exons 12 to 15.
The JAK2V617F assay has a sensitivity of 1% for the detection of cells containing the JAK2V617F mutation within a background of nonmutant cells. The JAK2 exon 12 to 15 assay has a mutation detection sensitivity of 15%.
Taqman® real time PCR amplification/detection; 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 test request form.
Maintain specimen 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; specimens containing suspicious foreign material
Please direct any questions regarding this test to customer service at 800-345-4363.