JAK2 E12-15 + CALR + MPL NGS Panel
Use
The JAK2 (Janus kinase 2) gene encodes for a non-receptor protein tyrosine kinase that activates cytokine and growth factor signaling. The V617F (c.1849 G>T) mutation results in constitutive activation of JAK2 and downstream STAT5 and ERK signaling. The V617F mutation is observed in approximately 95% of polycythemia vera (PV), 60% of essential thrombocythemia (ET) and primary myelofibrosis (PMF). It is also infrequently present (3-5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia and other atypical chronic myeloid disorders. A small percentage of JAK2 mutation-positive patients (3.3%) contain other non-V617F mutations within exons 12 to 15. In particular, mutations in exon 12 of JAK2 have been described in approximately 3% of patients with PV. JAK2 allele burden correlates with clinical phenotype, with low levels of mutant allele characterized by thrombocytosis, intermediate levels with erythrocytosis and high mutant allele burden, correlating with enhanced myelopoiesis of the BM, leukocytosis, increasing spleen size and circulating CD34-positive cells.
Special Instructions
Submit specimens at room temperature to the laboratory within 48 hours of collection. Ensure the date and time of collection are indicated on the test request form. Specimens should be shipped at room temperature, and if storage is necessary prior to shipment, store at 2°C to 8°C.
Limitations
This test has a detection sensitivity of approximately 1% variant allele frequency (VAF) for JAK2 V617F and 2.5% VAF for other mutations targeted within JAK2 exons 12 to 15, CALR, and MPL. Detection of deletions is limited to sizes up to 6 bp in JAK2 and 70 bp in CALR, while insertions are detected up to 34 bp and 12 bp respectively. Diagnostic performance may be influenced by the quality and quantity of the submitted sample, and the presence of clonal hematopoiesis may impact results. This assay has not been cleared or approved by the FDA.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 66746-9
- 48726-4
- 48004-6
- 48005-3
- 77174-1
- 75033-1
- 62364-5
- 49549-9
- 75608-0
- 72486-4
Result Turnaround Time
7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 to 5 mL
Minimum Volume
3 mL
Container
Lavender-top (EDTA) tube, green-top (sodium heparin) tube, yellow-top (ACD) tube, tan-top (K2-EDTA) tube or pink-top (K2-EDTA) tube
Collection Instructions
Submit at room temperature. Specimens should arrive in the laboratory within 48 hours of collection. Indicate date and time of collection on test request form.
Storage Instructions
Ship at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C.
Causes for Rejection
Specimen does not meet all of the criteria for sample type, container, minimum volume, collection and storage; frozen whole blood or marrow; leaking tube; clotted blood or marrow; grossly hemolyzed or otherwise visibly degraded; contamination by another specimen; specimen containing foreign material
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