JAK2V617F Mutation Analysis, Quantitative

CPT: 81270
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Test Details

Use

The quantitative real-time PCR assay detects V617F mutation (c.1849 G>T) observed in approximately 95% polycythemia vera (pv), 55% essential thrombocythemia (ET), and 55% primary myelofibrosis (PMF). It is also infrequently present (3% to 5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia, and other atypical chronic myeloid disorders. The results should be interpreted in the context of all clinical and laboratory findings. No therapeutic action should be taken based solely on these results.

Limitations

This assay detects only the JAK2V617F point mutation. Other mutations that may occur in the JAK2 gene will not be detected. In vitro studies have indicated that this assay has an analytical sensitivity of 1%. This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).

Methodology

Total genomic DNA was extracted and subjected to TaqMan® real-time PCR amplification/detection. Two amplification products per sample were monitored by real-time PCR using primers/probes specific to JAK2 wild type (WT) and JAK2 mutant V617F. The ABI7900 Absolute Quantitation software will compare the patient specimen values to the standard curves and generate percent values for wild type and mutant type. The numerical values of sample Mutant Quantity/(Sample Mutant Quantity + Sample Wild Type Quantity) X100 is reported as a percentage.

Specimen Requirements

Specimen

Whole blood or bone marrow

Volume

3 to 5 mL whole blood or 1 to 2 mL bone marrow

Minimum Volume

3 mL whole blood or 1 mL bone marrow

Container

Lavender-top (EDTA) tube or green-top (sodium heparin) tube

Collection

Submit at room temperature. Specimen should arrive at the testing laboratory within 48 hours of collection. Indicate the date and time of collection on the 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

Sample more than 72 hours old; frozen whole blood, serum or bone marrow; leaking tube; clotted blood or bone marrow; grossly hemolyzed specimen or otherwise visibly degraded or unsuitable; specimens containing suspicious foreign material

Clinical Information

Special Instructions

Please provide indications for JAK2 testing and specimen type. Direct any questions regarding this test to customer service at 800-345-4363.

References

Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005 Mar 19-25; 365(9464):1054-1061. Erratum: Lancet. 2005 Jul 9-15;366(9480):122. 15781101
James C, Ugo V, Le Couédic JP. A unique clonal JAK2 mutation leading to constitutive signaling causes polycythaemia vera. Nature. 2005 Apr 28; 434(7037):1144-1148. 15793561
Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005 Apr 28; 352(17):1779-1790. 15858187

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
481020 JAK2 V617F, Quantitative 481021 JAK2 V617F Mutation Quant Rslt 43399-5
481020 JAK2 V617F, Quantitative 481026 Quantitative Value: % 53761-3
481020 JAK2 V617F, Quantitative 481027 Indications: 42349-1
481020 JAK2 V617F, Quantitative 480997 Specimen Type: 31208-2
481020 JAK2 V617F, Quantitative 480998 Background: 77202-0
481020 JAK2 V617F, Quantitative 480999 Methodology: 49549-9
481020 JAK2 V617F, Quantitative 481016 References: 75608-0
481020 JAK2 V617F, Quantitative 481132 Director Review: 72486-4
481020 JAK2 V617F, Quantitative 481481 JAK2 V617F, Quantitative N/A
Reflex Table for Specimen Type:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511597 Comment: 511597 Comment: N/A

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