JAK2 V617F Mutation Analysis

JAK2 Qualitative, JAK2 PCR, Polycythemia vera, PV, Essential Thrombocythemia, ET, Primary Myelofibrosis, PMF, Thrombocytosis, MPN, myeloproliferative neoplasm, GJAKG

Test Codes

EPIC: LAB1230375

Department

Molecular Pathology

Specimen Collection Criteria

Collect: Blood OR Bone Marrow.

• Blood: 10.0 mL whole blood in Lavender-top EDTA tubes or Yellow-top ACD tubes. (Minimum: 5.0 mL)
• Bone Marrow: 1.0 mL bone marrow aspirate in a Lavender-top EDTA tube. (Minimum: 0.5 mL)

Physician Office/Draw Specimen Preparation

Do not freeze specimens. Maintain specimens refrigerated (preferred) (2-8°C or 36-46°F) or 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) or refrigerated (preferred) (2-8°C or 36-46°F).

Rejection Criteria

• Frozen specimens. 
• Centrifuged specimens.
• Mislabeled or unlabeled tubes. 
• Specimens collected in heparin tubes (Green-top), clot tubes (Red-top), or SST tubes. 
• Specimens not collected and processed as indicated.

Clients will be notified of any cancellations of testing.

In-Lab Processing

Do not freeze specimens. Maintain specimen refrigerated (2-8°C or 36-46°F) prior to testing. 

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

DNA (post testing):

Frozen (-25 to –15C): Indefinitely

Laboratory

Royal Oak Molecular Pathology Laboratory

Performed

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

Reference Range

Not detected.

Test Methodology

Allele-specific polymerase chain reaction (AS-PCR), followed by fragment 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.

JAK2 V617F is one of the major diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis based on the WHO classification.  It can also be seen in other myeloid neoplasms such as MDS/MPN-RS-T.

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 or clinical features suspicious for myeloproliferative neoplasm. JAK2 V617F can also be seen at low levels in individuals who do not meet the diagnostic criteria for PV, ET, or PMF.  Such patients however are considered to be at increased risk for developing a myeloproliferative neoplasm in the future.
  
• This test is also recommended for patients presenting with abdominal venous thrombosis.
  

CPT Codes

81270

Contacts

Last Updated

10/6/2025