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Test Code LAB1234687 JAK2 Exon 12 and Other Non-V617F Mutation Detection, Bone Marrow

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Reporting Name

JAK2 Exon 12 Mutation Detection, BM

Specimen Type

Bone Marrow


Ordering Guidance


For 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.



Shipping Instructions


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

2. Collect 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 bone marrow specimen in original tube. Do not aliquot.


Reject Due To

Gross hemolysis Reject
Moderately to severely clotted Reject

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

Specimen Minimum Volume

2 mL

Day(s) Performed

Monday through Saturday

Specimen Retention Time

Bone marrow: 2 weeks; Extracted RNA: 3 months

Report Available

5 to 8 days

Reference Values

An interpretive report will be provided.

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 considered, using bone marrow specimens

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.

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

Supportive Data

Analytical sensitivity is approximately 20% meaning there must be about 20% of the mutated DNA in the sample for reliable detection.

Forms

1. Hematopathology Patient Information (T676)

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