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Test ID: PVJAK Polycythemia Vera, JAK2 V617F with Reflex to JAK2 Exon 12-15, Sequencing for Erythrocytosis, Varies


Shipping Instructions


Specimen must arrive within 5 days (120 hours) of collection.



Necessary Information


The following information is required:

1. Pertinent clinical history

2. Clinical or morphologic suspicion

3. Date of collection

4. Specimen source



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Blood

Container/Tube: EDTA (lavender top) or ACD-B (yellow top)

Specimen Volume: 10 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

3. Label specimen as blood.

 

Specimen Type: Bone marrow aspirate

Container/Tube: EDTA (lavender top) or ACD-B (yellow top)

Specimen Volume: 4 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

3. Label specimen as bone marrow.


Forms

If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.

Useful For

Aiding in the distinction between the myeloproliferative neoplasm polycythemia vera (PV) and other secondary erythrocytosis

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
JAKXR JAK2 Exon 12-15 Sequencing, Reflex No, (Bill Only) No

Testing Algorithm

Both DNA and RNA are extracted. The algorithm starts with a highly sensitive DNA-based JAK2 V617F test by allele specific PCR. If the JAK2 V617F result is negative or very low positive (0.06%-0.6%), JAK2 exon 12-15 Sanger sequencing test will be performed on the stored RNA sample. If a JAK2 V617F mutation (>0.6%) is detected, the algorithm stops and no further testing will be performed.

 

The Sanger sequencing covers JAK2 exons 12 through the first 90% of exon 15, which spans the region containing essentially all mutations reported in myeloproliferative neoplasms. The following algorithms are available in Special Instructions.

-Erythrocytosis Evaluation Testing Algorithm

-Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation

-Myeloproliferative Neoplasm: A Diagnostic Approach to Peripheral Blood Evaluation

Method Name

Allele-Specific Polymerase Chain Reaction (AS-PCR) and Sanger Sequencing

Reporting Name

PV (JAK2 V617F, Exon 12-15) Reflex

Specimen Type

Varies

Specimen Minimum Volume

Blood: 4 mL
Bone Marrow: 2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Refrigerated (preferred) 5 days
  Ambient  5 days

Clinical Information

The Janus kinase 2 (JAK2) gene codes for a tyrosine kinase (JAK2) that is associated with the cytoplasmic portion of a variety of transmembrane cytokine and growth factor receptors important for signal transduction in hematopoietic cells. Signaling via JAK2 activation causes phosphorylation of downstream signal transducers and activators of transcription (STAT) proteins (eg, STAT5) ultimately leading to cell growth and differentiation. The JAK2 V617F is located in exon 14 and present in 50% to 60% of primary myelofibrosis and essential thrombocythemia, and 95% to 98% of polycythemia vera (PV). In the rest of the polycythemia vera cases, over 50 different mutations have been reported within exons 12 through 15 of JAK2 and essentially all of the non-V617F JAK2 mutations have been identified in polycythemia vera. These mutations include point mutations and small insertions or deletions. Several of the exon 12 mutations have been shown to have biologic effects similar to those caused by the V617F mutation such that it is currently assumed other nonpolymorphic mutations have similar clinical effects. However, some mutations may not be well characterized and requires further clinical and research evaluation.

Reference Values

An interpretive report will be provided.

Interpretation

The results will be reported as 1 of the 3 following states:

-Positive for JAK2 V617F mutation

-Positive for JAK2 mutation (other than V617F)

-Negative for JAK2 mutations

 

If the result is positive, a description of the mutation at the nucleotide level and the altered protein sequence are reported.

 

A positive mutation status is highly suggestive of a myeloid neoplasm and may support a diagnosis of polycythemia vera in the appropriate clinical setting. Correlation with clinicopathologic findings and other laboratory results is necessary in all cases.

 

A negative mutation status makes a diagnosis of polycythemia vera highly unlikely, although it does not completely exclude this possibility, other myeloproliferative neoplasms or other neoplasms.

Clinical Reference

1. Baxter EJ, Scott LM, Campbell PJ, et al: Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005 March 16;365(9464):1054-1061

2. James C, Ugo V, Le Couedic JP, et al: A unique clonal JAK2 mutation leading to constitutive signaling causes polycythaemia vera. Nature 2005 April 28;434(7037):1144-1148

3. Kralovics R, Passamonti F, Buser AS, et al: A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005;352:1779-1790

4. Steensma DP, Dewald GW, Lasho TL, et al: The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and the myelodysplastic syndrome. Blood 2005;106:1207-1209

5. Ma W, Kantarjian H, Zhang X, et al: Mutation profile of JAK2 transcripts in patients with chronic myeloid neoplasias. J Mol Diagn 2009;11:49-53

6. Kilpivaara O, Levine RL: JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and science. Leukemia 2008;22:1813-1817

7. Kravolics R: Genetic complexity of myeloproliferative neoplasms. Leukemia 2008;22:1841-1848

Day(s) and Time(s) Performed

Monday through Friday

Analytic Time

7 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81270-JAK2 V617

0027U (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PVJAK PV (JAK2 V617F, Exon 12-15) Reflex In Process

 

Result ID Test Result Name Result LOINC Value
42395 PV Reflex Result 43399-5
MP037 Specimen Type 31208-2
42394 Final Diagnosis 50398-7
Mayo Clinic Laboratories | Hematology Catalog Additional Information:

mml-myeloproliferative-disorders