JAK2 Exon 12 Mutation Analysis by PCR (Change effective as of 10/20/25: Refer to 3020079 in the October Hotline)
Also known as: JAK2 EX12
Use
Analysis of mutations in exon 12 of the JAK2 gene, typically utilized when suspicion for polycythemia vera is high but JAK2 V617F testing is negative, to assist in confirming or excluding a diagnosis of JAK2-associated myeloproliferative neoplasms.
Special Instructions
Laboratory-developed test (LDT); change effective October 20, 2025—see new test 3020079. Use only whole blood or bone marrow in EDTA; New York State–approved. Components include Source and Interpretation reports.
Limitations
Not effective if specimen is plasma, serum, FFPE tissue blocks/slides, frozen tissue, collected in non‑EDTA anticoagulants, clotted or grossly hemolyzed. Frozen specimens unacceptable.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 31208-2
- 63421-2
Result Turnaround Time
3-9 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL (transport); Min: 1 mL
Minimum Volume
1 mL
Container
Lavender (EDTA) tube
Collection Instructions
Do not freeze; transport refrigerated.
Causes for Rejection
Plasma, serum, FFPE tissue blocks/slides, frozen tissue; specimens collected in anticoagulants other than EDTA; clotted or grossly hemolyzed specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 7 days refrigerated |
| Frozen | Unacceptable |