JAK2 Mutational Analysis
Indication
An activating point mutation in JAK2 (V617F) have recently been identified in three different chronic myeloproliferative disorders, including polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis/myeloid metaplasia with myelofibrosis (IMF). This mutation is found in 50-85% of PV patients, 30-40% of ET patients and 30-60% of IMF patients. Detection of this mutation will now permit assessment of clonality in these common but previously difficult to diagnosis conditions and may provide insight into their molecular pathogenesis and treatment strategies. This assay can also be used to track levels of residual disease following treatment.
Methodology
PCR-based pyrosequencing of DNA is performed to examine mutational status of codon 617. The level of mutated/unmutated PCR product are reported.
Sensitivity
Tumor clone must comprise at least 5% of the cells in the sample for accurate assessment. Levels are quantitative with approximately 5-10% variability.
Turnaround Time
10 days
Sample Requirements
- 10 ml peripheral blood in purple top tube (EDTA Vacutainer), sent on wet ice
or - 2-5 ml of bone marrow aspirate, sent on wet ice
or - Frozen tissue samples
or - Formalin-fixed, paraffin embedded tissue blocks
Please provide a copy of the corresponding pathology report.
CPT Codes
83890 (DNA Isolation), 83898, 83904, 83912
Additional charges may apply for tissue extraction.
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.