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JAK2 Targeted Mutation Analysis (V617F Mutation)

Myeloproliferative disorders include polycythemia vera (PV), essential thrombocythemia (ET), and idiopathic myelofibrosis (IMF). These conditions are often associated with acquired mutation(s) in the JAK2 gene. The JAK2 V617F mutation is the most common molecular abnormality observed in BCR-ABL negative chronic myeloproliferative disorders. It is found in 65-97% of PV, 23-75% of ET, and 35-57% of IMF. It can occasionally be seen in acute and chronic leukemias. This mutation is not normally observed in healthy individuals. The V617F mutation causes a change of valine to phenylalanine at positon 617, and appears to render hematopoietic cells more sensitive to growth factors. Identification of this mutation in a symptomatic patient may have diagnostic and therapeutic significance.

Reasons for Referral

Individual with suspected myeloproliferative disorder for diagnostic and therapeutic purposes

Testing Methods

PCR and gel electrophoresis

Turn Around Time

5 days or fewer

Specimen Requirements and Shipping/Handling

Blood: A single tube with 1-5 mL whole blood in EDTA (lavender top).

    Shipping:

    Store blood at 4°C until shipment. Ship at ambient temperature in an insulated container via overnight delivery within 96 hours of collection.

    Send Specimen(s) to:

    Genetics Center
    211. S Main Street
    Suite AA
    Orange, CA 92868
    Tel: (714)288-3500

     

    Test Limitations

    This assay has a lower limit of detection of 1-5% mutant cells in a background of normal cells, is qualitative, and is not designed to distinguish between heterozygous and homozygous mutations. Results of this test are recommended to be interpreted in the context of relevant pathology and clinical data.

    CPT Codes

    CPT’s: 81270, G0452