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Test Code JAKXM JAK2 Exon 12 and Other Non-V617F Mutation Detection, Bone Marrow

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Second-order testing to aid in the distinction between a reactive cytosis and a myeloproliferative neoplasm, particularly when a diagnosis of polycythemia is being entertained; for use with bone marrow specimens

Method Name

Mutation Detection in cDNA Using Sanger Sequencing


Advisory Information


In all cases being evaluated for JAK2 mutation status, the initial test that should be ordered is JAK2M / JAK2 V617F Mutation Detection, Bone Marrow, a sensitive assay for detection of the mutation. However, if no JAK2 V617F mutation is found, further evaluation of JAK2 may be clinically indicated.

 

This test is a second-order test that should be ordered when the test for the JAK2M / JAK2 V617F Mutation Detection, Bone Marrow test is negative.



Shipping Instructions


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

2. Draw and package specimen as close to shipping time as possible.



Necessary Information


Date of collection is required.



Specimen Required


Container/Tube:

Preferred: EDTA (lavender top)

Acceptable: ACD (yellow top)

Specimen Volume: 4 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send specimen in original tube.


Reporting Name

JAK2 Exon 12 Mutation Detection, BM

Specimen Type

Bone Marrow

Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Bone Marrow Refrigerated (preferred) 5 days PURPLE OR PINK TOP/EDTA
  Ambient  5 days PURPLE OR PINK TOP/EDTA

Reject Due To

Gross hemolysis Reject
Other Moderately to severely clotted

Reference Values

An interpretive report will be provided.

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

LOINC Code Information

Test ID Test Order Name Order LOINC Value
JAKXM JAK2 Exon 12 Mutation Detection, BM 80186-0

 

Result ID Test Result Name Result LOINC Value
39468 JAK2 Sequencing Result 80186-0
20250 Final Diagnosis: 34574-4

Forms

1. Hematopathology Patient Information (T676) in Special Instructions

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

Testing Algorithm

This is a second-order test that should be used when the test for the JAK2M / JAK2 V617F Mutation Detection, Bone Marrow test is negative.

 

See Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation in Special Instructions.