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

TEST: 489540
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CPT: 81270
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Expected Turnaround Time

7 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

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, green-top (sodium heparin) tube, yellow-top (ACD) tube, tan-top (K2-EDTA) tube or pink-top (K2-EDTA) tube

Collection

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

Test Details

Use

Molecular testing of blood or bone marrow is useful in the evaluation of suspected myeloproliferative neoplasms (MPN). This test will assess for the JAK2V617F (exon 14) mutation first and will reflex JAK2 exon 12 to 15 mutation analysis if the JAK2V617F mutation is negative.

The JAK2 (Janus kinase 2) gene encodes for a non-receptor protein tyrosine kinase that activates cytokine and growth factor signaling. The V617F (c.1849 G>T) mutation results in constitutive activation of JAK2 and downstream STAT5 and ERK signaling. The V617F mutation is observed in approximately 95% of polycythemia vera (PV), 60% of essential thrombocythemia (ET) and primary myelofibrosismia (PMF). It is also infrequently present (3-5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia and other atypical chronic myeloid disorders. A small percentage of JAK2 mutation-positive patients (3.3%) contain other non-V617F mutations within exons 12 to 15. In particular, mutations in exon 12 of JAK2 have been described in approximately 3% of patients with PV. JAK2 mutation allele of mutant allele characterized by thrombocytosis, intermediate levels with erythrocytosis and high mutant allele burden, correlating with enhanced myelopoiesis of the BM, leukocytosis, increasing spleen size and circulating CD34-positive cells.

Limitations

This assay has a sensitivity of approximately 1% VAF for JAK2V617F and 2.5% VAF for other mutations in JAK2 exons 12 to 15.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Methodology

Amplicon-based Next Generation Sequencing

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):34-41.26361084
Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016 May 19;127(20):2391-2405.27069254
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
NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) Myeloproliferative Neoplasms Version 3.2022 - August 11, 2022.
Swerdlow SH, editor. WHO classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th edn. Lyon, France: International Agency for Research on Cancer; 2017.
Tefferi A. Primary myelofibrosis: 2021 update on diagnosis, risk-stratification and management. Am J Hematol. 2021 Jan;96(1):145-162.33197049
Vainchenker W, Kralovics R. Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms. Blood. 2017 Feb 9;129(6):667-679.28028029

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
489540 JAK2 V617F, reflex to E12-15 489541 JAK2 V617F Result 48726-4
489540 JAK2 V617F, reflex to E12-15 489542 JAK2 V617F % % 53761-3
489540 JAK2 V617F, reflex to E12-15 489549 Reflex N/A
489540 JAK2 V617F, reflex to E12-15 489543 V617F Rfx E12-15 Background 62364-5
489540 JAK2 V617F, reflex to E12-15 489550 Method 49549-9
489540 JAK2 V617F, reflex to E12-15 489551 References 75608-0
489540 JAK2 V617F, reflex to E12-15 489552 Director Review 72486-4
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 489554 E12-E15 489544 E12-15 Result 48726-4
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 489554 E12-E15 489545 E12-15 % % N/A
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 489554 E12-E15 489546 E12-15 Nucleotide 48004-6
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 489554 E12-E15 489547 E12-15 Amino Acid 48005-3

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