JAK2V617F Mutation Analysis, Quantitative, With Reflex to JAK2 Exon 12-15 Mutation Analysis

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) and will reflex to the JAK2 exon 12 to 15 mutation analysis when the JAK2V617F is negative. It is also infrequently present (3 to 5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia, and other atypical chronic myeloid disorders. A small percentage (~3.3%) of JAK2 mutation positive patients contain other non-V617F mutations within exon 12 to 15. The results should be interpreted in the context of all clinical and laboratory findings. No therapeutic action should be taken solely on these results.

Limitations

This assay has an analytical sensitivity of 1% for the detection of cells containing the JAK2V617F mutation and 15% for JAK2 exon 12 to 15 in a background of non-mutant cells.

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

Sanger sequencing

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 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; and 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

Alghasham N, Alnouri Y, Abalkhail H, Khalil S. Detection of mutations in JAK2 exons 12-15 by Sanger sequencing. Int J Lab Hematol. 2016 Feb;38(1):34-41.
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):1054-1061.15781101
Erratum: Lancet. 2005 Jul 9-15;366(9480):122.
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
Ma W, Kantarjian H, Zhang X, et al. Mutation profile of JAK2 transcripts in patients with chronic myeloproliferative neoplasias. J Mol Diagn. 2009 Jan;11(1):49-53.19074595

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
489417 JAK2 V617F Qt, Rfx E12-15 481021 JAK2 V617F Mutation Quant Rslt 43399-5
489417 JAK2 V617F Qt, Rfx E12-15 481026 Quantitative Value: % 53761-3
489417 JAK2 V617F Qt, Rfx E12-15 481027 Indications: 42349-1
489417 JAK2 V617F Qt, Rfx E12-15 480997 Specimen Type: 31208-2
489417 JAK2 V617F Qt, Rfx E12-15 480998 Background: 77202-0
489417 JAK2 V617F Qt, Rfx E12-15 480999 Methodology: 49549-9
489417 JAK2 V617F Qt, Rfx E12-15 481016 References: 75608-0
489417 JAK2 V617F Qt, Rfx E12-15 481132 Director Review: 72486-4
489417 JAK2 V617F Qt, Rfx E12-15 489355 Extraction N/A
489417 JAK2 V617F Qt, Rfx E12-15 489429 Reflex: N/A
489417 JAK2 V617F Qt, Rfx E12-15 489349 JAK2 V617F Qt, Rfx E12-15 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
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 115328 JAK2 Exons 12-15 Mut Det PCR 48726-4
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 115347 JAK2 Exons 12-15 Mutation Anal N/A
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 489415 Indications 42349-1
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 489416 Specimen Type 31208-2
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 489391 Nucleotide Change 48004-6
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 489392 Amino Acid Change 48005-3
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 489393 Background 77202-0
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 489394 Method 49549-9
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 489412 References 75608-0
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 489413 Director Review 72486-4
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 489414 JAK2 E12-E15 Mutation N/A

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The LOINC® codes are copyright © 1994-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf