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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

5-7 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.