JAK2 Exon 12, 13, 14 and 15 Mutation Analysis by NGS
Use
Molecular testing of blood or bone marrow is useful in the evaluation of suspected myeloproliferative neoplasms (MPN). This test will assess mutations in JAK2 exons 12, 13, 14 and 15.
Special Instructions
Not provided.
Limitations
This assay exhibits a sensitivity of approximately 1% VAF for the JAK2 V617F mutation and 2.5% VAF for other mutations within JAK2 exons 12 to 15. Deletions up to 6 bp and insertions up to 34 bp in JAK2 have been identified in validation studies. The test's reliability in identifying mutations beyond these parameters has not been established.
Methodology
NGS (Targeted)
Biomarkers
JAK2
Gene
LOINC Codes
- 48726-4 - JAK2 gene Mut Anl Bld/T
- 48726-4 - JAK2 gene Mut Anl Bld/T
- 66746-9 - Specimen type
- 48004-6 - DNA change
- 48005-3 - Amino acid change
- 62364-5 - Test performance info Spec
- 49549-9 - Ref lab test method
- 75608-0 - Citation Ref Lab Test
- 72486-4 - Lab director name Provider
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. Indicate date and time of collection on test request form. Specimens should arrive in the laboratory within 48 hours of collection.
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 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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