JAK2 V617F, Rfx CALR/E12/MPL
CALR Mutation Analysis
JAK2 Exon 12-15 Mutation Detection
Janus Kinase 2 V617F Mutation Detection
MPL Mutation Analysis
This test will assess for the JAK2V617F (exon 14) mutation first and will reflex to CALR mutation analysis, JAK2 exon 12 to 15 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). A small percentage (~3.3%) of JAK2 mutation positive patients contain other non-V617F mutation with exon 12 to 15.
Whole blood, bone marrow or cell pellet
3 to 5 mL whole blood or 1 to 2 mL bone marrow
3 mL whole blood or 1 mL bone marrow
Lavender-top (EDTA) tube or green-top (sodium heparin) tube
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.
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.
Specimen does not meet collection criteria; frozen whole blood, marrow, or cell pellet; leaking tube; clotted blood or marrow; grossly hemolyzed specimen or otherwise visibly degraded; contamination by another specimen; specimens containing suspicious foreign material