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Test Code JAKXR JAK2 Exon 12-15 Sequencing, Polycythemia Vera Reflex, Varies

Reporting Name

JAK2 Exon 12-15 Sequencing, Reflex

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

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

 

Evaluating for mutations within exons 12 to 15 of JAK2 in an algorithmic process as part of PVJAK / Polycythemia Vera, JAK2 V617F with Reflex to JAK2 Exon 12-15, Sequencing for Erythrocytosis, Varies

Method Name

Only orderable as a reflex. For more information, see PVJAK / Polycythemia Vera, JAK2 V617F with Reflex to JAK2 Exon 12-15, Sequencing for Erythrocytosis, Varies.

 

Mutation Detection in cDNA Using Sanger Sequencing

Specimen Type

Varies


Specimen Required


Only orderable as a reflex. For more information, see PVJAK / Polycythemia Vera, JAK2 V617F with Reflex to JAK2 Exon 12-15, Sequencing for Erythrocytosis, 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

Reject Due To

Gross hemolysis Reject
Other Paraffin-embedded bone marrow aspirate clot or biopsy blocks Slides Paraffin shavings Moderately to severely clotted

Reference Values

Only orderable as a reflex. For more information, see PVJAK / Polycythemia Vera, JAK2 V617F with Reflex to JAK2 Exon 12-15, Sequencing for Erythrocytosis, Varies.

 

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.

Day(s) and Time(s) Performed

Monday through Friday

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

0027U-JAK2 (Janus kinase 2) (eg, myeloproliferative disorder), exon 12 sequence and exon 13 sequence, if performed