JAK2 V617F Gene Mutation

JAK2 Qualitative, JAK2 PCR, Polycythemia vera, PV, Essential Thrombocythemia, ET, Primary Myelofibrosis, PMF, thrombocytosis, EPIC: LAB6385, SOFT: GJAKG

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: Whole blood or bone marrow at room temperature (20-26°C or 68-78.8°F).

Rejection Criteria

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

Storage

Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): 72 hours
Refrigerated (2-8°C or 36-46°F): 7 days
Frozen (-20°C/-4°F or below): Unacceptable

Specimen Storage in Department Prior to Disposal:

Refrigerated (2-8°C or 36-46°F): 7 days

Extracted DNA may be available for additional testing if clinically indicated. Contact the Molecular Pathology Laboratory for verification.

Laboratory

Royal Oak Clinical Molecular Pathology Laboratory.

Performed

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

Reference Range

Negative (no mutation).

Test Methodology

Allele-specific multiplex polymerase chain reaction (AS-PCR), followed high resolution capillary electrophoresis mutation analysis.

Interpretation

This test detects the point mutation V617F in the JAK2 gene. This gene encodes for a cytoplasmic tyrosine kinase; the mutation changes the encoded amino acid valine at position 617 to phenylalanine; altering this highly conserved valine in the negative regulatory JH2 domain dysregulates the kinase activity.

Clinical Utility

• The single acquired mutation of JAK2 is present in more than half of patients with myeloproliferative disorders, other than CML (chronic myeloid leukemia). The frequency of the V617F mutation is reported up to 97% in Polycythemia Vera, and approximately 50% in Essential Thrombocythemia, and Primary Myelofibrosis.
• The test is recommended in all patients with morphology consistent with myeloproliferative neoplasm, and it is one of the major diagnostic criteria for P. vera and Primary Myelofibrosis based on the WHO classification and also one of the required criteria for diagnosis of Essential Thrombocythemia. The test is also recommended for patients presenting with abdominal venous thrombosis.

CPT Code

81270.

Test Codes

EPIC: LAB6385, SOFT: GJAKG

Last Updated

08/02/2017