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JAK2 V617F MUTATION ANALYSIS
Test CodeLAB1230471
CPT Codes
81270
Includes
Detection of JAK2 V617F/G1849T somatic mutation due to a single nucleotide polymorphism (SNP) in genomic DNA.
Preferred Specimen
5 mL bone marrow collected in an EDTA (lavender-top) tube having lesions cells
≥20% or a minimum
≥10% determined either by morphology (blasts), or flow cytometry
≥20% or a minimum
≥10% determined either by morphology (blasts), or flow cytometry
Minimum Volume
4mL bone marrow collected in EDTA
4mL whole blood collected in EDTA
4mL whole blood collected in EDTA
Other Acceptable Specimens
5 mL Whole blood collected in an EDTA (lavender-top) tube or extracted DNA minimum 200 ng (10 ng/ μL) from CLIA certified laboratory
Transport Temperature
Refrigerated, 2-8°C
Specimen Stability
Whole blood or bone marrow (EDTA)
- Room temperature: 2 days
- Refrigerated: 7 days
- Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
- Non-validated sample type
- Specimen does not meet criteria for: minimum volume, no label in container, mismatching name/MRN/pathology number on specimen requisition, collection, and storage; frozen whole blood or marrow; leaking tube; clotted blood or marrow; severely hemolyzed and visibly degraded specimen; contaminated specimen; contains suspicious foreign material, sample mix-up.
- The stability limit for Blood and Bone Marrow is 7 days, samples beyond this limit will be rejected
Methodology
Polymerase Chain Reaction (PCR)
Setup Schedule
Once a week (samples should be received by Wednesday: 3 pm to be included in the next run)
Reference Range
Negative for JAK2 p.V617F (Mutant <= 0.5%)
Clinical Significance
This test may be performed whenever a non-BCR-ABL associated myeloproliferative disorder is suspected; specifically myeloproliferative neoplasms (MPN), polycythemia vera (PV), essential thrombocythemia (ET), and/or primary myelofibrosis (PMF) including setting with unexplained increased hematocrit, unexplained leukocytosis.
This test is also intended to be used in patient with refractory anemia with ring sideroblasts associated with marked thrombocytosis (RARS-T), myelodysplastic syndromes (MDS), chronic myelomonocytic leukemia (CMML), atypical chronic myeloid leukemia (aCML) and acute myeloid leukemia (AML). This test can be done for confirmation of clinical diagnosis or presymptomatic testing.
This test is also intended to be used in patient with refractory anemia with ring sideroblasts associated with marked thrombocytosis (RARS-T), myelodysplastic syndromes (MDS), chronic myelomonocytic leukemia (CMML), atypical chronic myeloid leukemia (aCML) and acute myeloid leukemia (AML). This test can be done for confirmation of clinical diagnosis or presymptomatic testing.
Performing Laboratory
West Virignina University Hospitals, Inc.
WVUH – Molecular Diagnostics Laboratory, located at Operation Support Center
