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Test ID LBOR0196 Polycythemia Vera, JAK2 V617F with Reflex to JAK2 Exon 12-15, Sequencing for Erythrocytosis, Varies


Shipping Instructions


Specimen must arrive within 5 days of collection.



Necessary Information


 



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Blood

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

Specimen Volume: 10 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

3. Label specimen as blood.

 

Specimen Type: Bone marrow aspirate

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

Specimen Volume: 4 mL

Collection Instructions:

1. Invert several times to mix blood.

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

3. Label specimen as bone marrow.


Forms

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

Secondary ID

65116

Useful For

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

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
JAKXR JAK2 Exon 12-15 Sequencing, Reflex Yes, (order JAKXB-blood or JAKXM-bone marrow), Bill Only No

Testing Algorithm

The test starts with a highly sensitive DNA-based JAK2 V617F test by allele-specific polymerase chain reaction. If the JAK2 V617F result is negative or very low positive (0.06%-2%), JAK2 exon 12-15 Sanger sequencing will be performed on the stored RNA sample. If a JAK2 V617F mutation (>2%) is detected, 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. For more information see:

-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 (PCR) and Sanger Sequencing

Reporting Name

PV (JAK2 V617F, Exon 12-15) Reflex

Specimen Type

Varies

Specimen Minimum Volume

Blood: 8 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
Paraffin-embedded bone marrow aspirate clot or biopsy blocks
Slides
Paraffin shavings
Moderately to severely clotted
Reject

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Saturday

Report Available

7 to 10 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

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

CPT Code Information

81270-JAK2 V617

0027U (if appropriate)