JAK2 V617F DNA Screen

JAK2 V617F testing is performed by allele-specific multiplex PCR using purified genomic DNA followed by detection by capillary electrophoresis and is a qualitative, not quantitative assay.

The somatic point mutation V617F in the JAK2 tyrosine kinase gene (JAK2V617F) has been associated with several chronic myeloproliferative disorders, including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).

This assay assesses only the JAK2 V617F variant and not exon 12 or other variants in JAK2. If indicated, consider JAK2 single gene sequencing.

Limit of Detection: 2.5%

Please complete a Hematopathology test request form found at Request Form

Preferred:
Blood: 6mL in Lavender Top (EDTA)

Bone Marrow: 1-2mL in Lavender Top (EDTA)

Tissue, Fluids or Sorted cells: Sterile container in RPMI

Formalin-fixed paraffin embedded tissue (FFPE/PET) block

Slides: 10 unstained PB or BM aspirate smears

Accepted:
Green Tops (Heparin), while green tops are accepted for testing, there is documentation that heparin can interfere with some PCR assays.

Extracted DNA from CLIA certified laboratory.

Formalin-fixed paraffin embedded tissue (FFPE/PET)

Tissue from curls cut from FFPE/PET blocks or stained cover-slipped slides

Unacceptable:
Specimens received beyond stability limit.
Specimens with low volume or inadequate WBC
Decalcified or unacceptable fixatives