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

Reporting Name

PV (JAK2 V617F, Exon 12-15) Reflex

Useful For

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

Method Name

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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

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.


Reject Due To

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

Specimen Minimum Volume

Blood: 8 mL; Bone marrow: 2 mL

Specimen Stability Information

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

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Saturday

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)

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

Forms

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

Secondary ID

65116

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

Report Available

7 to 10 days