Test Name
JAK2 V617F Mutation Analysis
Test Code
M JAK2
Synonyms
Janus Kinase 2 gene; V617F (Exon 14 mutation)
Associations
Chronic myeloproliferative disorders (MPD);
Hydroxurea
CPT Codes
83891, 83896 x2, 83898, 83912-26
Turnaround Time
10 days
Specimen Requirements
5.0 mL (min. 3.0 mL) whole blood, 3.0 mL (min. 1.0 mL) bone marrow EDTA, Sodium Heparin or ACD
Specimen Stability
Stable at 18-25°C for 72 hours Stable at 4°C for up to 7 days
Storage & Handling
Ship at ambient temperature, cool in summer. (Do not allow cool/refrigerated pack to directly contact sample.)
Causes for Rejections
Improper specimen labeling; Insufficient sample volume; Clotted specimen; Specimen older than 7 days
Description
Evaluation of patients with a high index of clinical suspicion for a Philadelphia chromosome-negative (BCR/ABL negative) myeloproliferative disorder (polycythemia vera, essential thrombocythemia, idiopathic myelofibrosis)
References
- Baxter EJ et al. (2005). Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 365:1054-1061.
- Kralovics et al. (2005). A gain-of-function mutation of JAK2 in myeloproliferative disorders. NEMJ. 352:1779-1790.
