JAK2V617F Mutation Analysis, Quantitative, With Reflex to CALR Mutation Analysis and MPL Mutation Analysis by NGS
Use
Molecular testing of blood or bone marrow is useful in the evaluation of suspected myeloproliferative neoplasms (MPN). Mutations in the JAK2, MPL and CALR genes are present in virtually all MPNs and their presence help distinguish benign reactive processes from clonal neoplasms. These mutations are generally considered mutually exclusive, although concurrent clones have been reported in rare patients. This test will assess for the JAK2V617F (exon 14) mutation first and will reflex to CALR mutation analysis and MPL mutation analysis if the JAK2V617F mutation is negative.
Special Instructions
Not provided.
Limitations
This assay has a sensitivity of approximately 1% VAF for JAK2V617F and 2.5% VAF for CALR and MPL mutations. Deletions in CALR up to 70 bp and insertions up to 12 bp have been detected in validation studies. The test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 48726-4 - JAK2 gene Mut Anl Bld/T
- 66746-9 - Specimen type
- 48726-4 - JAK2 gene Mut Anl Bld/T
- 53761-3 - JAK2 p.V617F mut/Nor Bld/T
- 62364-5 - Test performance info Spec
- 49549-9 - Ref lab test method
- 75608-0 - Citation Ref Lab Test
- 77174-1 - CALR Exon 9 Mut Anl Bld/T
- 48004-6 - DNA change
- 48005-3 - Amino acid change
- 75033-1 - MPL gene Mut Tested Mar
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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