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JAK2 V617F Mutation Analysis by PCR

Test Code

M JAK2

Test Synonyms

Janus Kinase 2 gene; V617F

Associations

Chronic myeloproliferative disorders (MPD);
Hydroxurea

Methodology

Real-time PCR

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 Rejection

Improper specimen labeling; Insufficient sample volume; Clotted specimen; Specimen older than 7 days

Reference Range

V617F mutation detected / not detected

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
  1. Baxter EJ et al. (2005). Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 365:1054-1061.
  2. Kralovics et al. (2005). A gain-of-function mutation of JAK2 in myeloproliferative disorders. NEMJ. 352:1779-1790.