JAK2-Exon 12 Mutational Analysis
Indication
Although most cases of polycythemia vera (PV) has the V617F activating mutation in the JAK2 tyrosine kinase, a small proportion of PV cases may have mutations (usually deletions) in exon 12. This assay can also be used to track levels of residual disease in JAK2-mutated tumors following treatment.
Methodology
PCR-based pyrosequencing of DNA is performed to examine mutational status of exon 12 of JAK2. The level of mutated/unmutated PCR product is reported.
Test Parameters
Tumor clones 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 will 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.