Lab Test

JAK2 Exon 12 Mutation Detection

JAK2 Exon 12 Non-V617F Mutation Detection, erythrocytosis, Polycythemia Vera , EPIC: LAB6911, SOFT: GJ12G

Specimen Collection Criteria

Collect: Blood OR Bone Marrow.

  • Blood: 10 mL whole blood in Lavender-top EDTA tubes or Yellow-top ACD tubes. (Min: 5.0 mL)
  • Bone Marrow: 1.0 mL bone marrow aspirate in a Lavender-top EDTA tube. (Min: 0.5 mL)

FedEx Shipping Instructions

Transport 10 mL whole blood (minimum: 5 mL) or 1.0 mL bone marrow aspirate (minimum: 0.5 mL), refrigerated. Do not freeze specimens.

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Physician Office/Drawsite Specimen Preparation

Do not freeze specimens. Maintain specimens at room temperature (20-26°C or 68-78.8°F) prior to transport.

Preparation for Courier Transport

Transport: 10.0 mL whole blood or 1.0 mL bone marrow, at room temperature (20-26°C or 68-78.8°F). (Min: 5.0 mL whole blood or 0.5 mL bone marrow)

Rejection Criteria

  • Frozen specimens.
  • Unlabeled tubes.
  • Specimens collected in heparin (Green-top), clot tubes (Red-top), or SST tubes.


Once per week.
Results available in 7-10 days. 

Reference Range

Negative (no mutation).

Test Methodology

Polymerase Chain Reaction (PCR) Amplification of Exon 12 of the JAK2 gene with Mutation Analysis by High Resolution Capillary Electrophoresis and Size Analysis.


Somatic mutations in Exon 12 of the JAK2 gene are seen in Polycythemia Vera patients found to be negative for the JAK2 V617F mutation. The test is part of the WHO diagnostic algorithm for suspected Polycythemia Vera that is V617F negative. The Exon 12 mutation prevalence is less than 5% in Polycythemia Vera cases. Exon 12 Mutation Analysis is also useful in the workup of patients with erythrocytosis.

CPT Code


Test Codes


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