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JAK2 Exon 12, 13, 14 and 15 Mutation Analysis
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 neoplasma (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 patient contain other non-V617F mutations within exons 12 to 15.
In vitro studies indicate that this analysis has a mutation detection sensitivity of 15%. Mutations occurring outside of the analyzed region of the JAK2 gene will not be detected by this assay.
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).
Reverse transcription polymerase chain reaction RT-PCR and 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
Lavender-top (EDTA) tube, green-top (sodium heparin) tube or yellow-top (ACD) tube
At room temperature (18-26°C)
Causes for Rejection
Specimen does not meet all of the criteria for sample type, container, minimum volume, collection and storage; frozen whole blood or marrow; leaking tube; clotted blood or marrow; grossly hemolyzed or otherwise visibly degraded; contamination by another specimen; specimen containing foreign material
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|115101||JAK2 Exons 12-15||115328||JAK2 Exons 12-15 Mut Det PCR||48726-4|
|115101||JAK2 Exons 12-15||115347||JAK2 Exons 12-15 Mutation Anal||N/A|
|115101||JAK2 Exons 12-15||489391||Nucleotide Change||48004-6|
|115101||JAK2 Exons 12-15||489392||Amino Acid Change||48005-3|
|115101||JAK2 Exons 12-15||489393||Background||77202-0|
|115101||JAK2 Exons 12-15||489394||Method||49549-9|
|115101||JAK2 Exons 12-15||489412||References||75608-0|
|115101||JAK2 Exons 12-15||489413||Director Review||72486-4|