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26348 Polycythemia Vera, JAK2 V617F with Reflex to JAK2 Exon 12-15, Sequencing for Erythrocytosis, Varies (PVJAK)

Polycythemia Vera, JAK2 V617F with Reflex to JAK2 Exon 12-15, Sequencing for Erythrocytosis, Varies (PVJAK)
Test Code: PVJAKSO
Synonyms/Keywords

JAK2 V617F

JAK2 exon 12

Polycythemia Vera

Myeloproliferative Neoplasm (MPN)

Test Components

​Both DNA and RNA are extracted. The algorithm 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%-0.6%), JAK2 exon 12-15 Sanger sequencing test will be performed on the stored RNA sample. If a JAK2 V617F mutation (>0.6%) is detected, the algorithm stops and 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. The following algorithms are available in Special Instructions.

Useful For

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

Specimen Requirements
​Submit only 1 of the following specimens: ​ ​ ​ ​ ​ ​
Fasting RequiredSpecimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen VolumeSpecimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​No​Whole Blood​EDTA Lavender Top Tube (LTT)​Yellow Top Tube ACD-B ​10 mL​4 mL
​No​Bone Marrow Aspirate​EDTA Lavender Top Tube (LTT)​Yellow Top Tube ACD-B ​4 mL​2 mL
Collection Processing Instructions

Blood:

1. Invert several times to mix blood.

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

3. Label specimen as blood.

Bone Marrow:

1. Invert several times to mix blood.

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

3. Label specimen as bone marrow. 

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

The following information is required:

1. Pertinent clinical history

2. Clinical or morphologic suspicion

3. Date of collection

4. Specimen source

Specimen Stability Information
Specimen TypeTemperatureTime
​Varies ​​Refrigerated (preferred)​5 days
​Ambient​5 days
Rejection Criteria
Gross hemolysis, Paraffin-embedded bone marrow aspirate clot or biopsy blocks, slides, paraffin shavings, moderately to severly clotted
Interference

​A positive result is not specific for a particular diagnosis. Correlation with clinicopathologic findings and other laboratory results is necessary in all cases.

If this test is ordered in the setting of erythrocytosis and suspicion of polycythemia vera, interpretation requires correlation with a concurrent or recent prior bone marrow evaluation.

Performing Laboratory Information
Performing LocationDay(s) Test PerformedReport AvailableMethodology/Instrumentation
​Mayo Clinic Laboratories​Monday through Friday​7 to 10 days​Allele-Specific Polymerase Chain Reaction (AS-PCR) and Sanger Sequencing
Reference Lab
Reference Range Information
Performing LocationReference Range
​Mayo Clinic Laboratories​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.​

Outreach CPTs
CPTModifier
(if needed)
QuantityDescriptionComments
​81270​JAK V617
​0027U​if appropriate
Synonyms/Keywords

JAK2 V617F

JAK2 exon 12

Polycythemia Vera

Myeloproliferative Neoplasm (MPN)

Test Components

​Both DNA and RNA are extracted. The algorithm 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%-0.6%), JAK2 exon 12-15 Sanger sequencing test will be performed on the stored RNA sample. If a JAK2 V617F mutation (>0.6%) is detected, the algorithm stops and 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. The following algorithms are available in Special Instructions.

Ordering Applications
Ordering ApplicationDescription
​COM​Polycythemia Vera, JAK2 V617F w/Rflx to JAK2
​Cerner​Polycythemia Vera, JAK2 V617F w/Rflx to JAK2 Exon 12-15, Seq for Erythrocytosis, Varies (PVJAK)
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
​Submit only 1 of the following specimens: ​ ​ ​ ​ ​ ​
Fasting RequiredSpecimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen VolumeSpecimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​No​Whole Blood​EDTA Lavender Top Tube (LTT)​Yellow Top Tube ACD-B ​10 mL​4 mL
​No​Bone Marrow Aspirate​EDTA Lavender Top Tube (LTT)​Yellow Top Tube ACD-B ​4 mL​2 mL
Collection Processing

Blood:

1. Invert several times to mix blood.

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

3. Label specimen as blood.

Bone Marrow:

1. Invert several times to mix blood.

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

3. Label specimen as bone marrow. 

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

The following information is required:

1. Pertinent clinical history

2. Clinical or morphologic suspicion

3. Date of collection

4. Specimen source

Specimen Stability Information
Specimen TypeTemperatureTime
​Varies ​​Refrigerated (preferred)​5 days
​Ambient​5 days
Rejection Criteria
Gross hemolysis, Paraffin-embedded bone marrow aspirate clot or biopsy blocks, slides, paraffin shavings, moderately to severly clotted
Interference

​A positive result is not specific for a particular diagnosis. Correlation with clinicopathologic findings and other laboratory results is necessary in all cases.

If this test is ordered in the setting of erythrocytosis and suspicion of polycythemia vera, interpretation requires correlation with a concurrent or recent prior bone marrow evaluation.

Useful For

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

Test Components

​Both DNA and RNA are extracted. The algorithm 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%-0.6%), JAK2 exon 12-15 Sanger sequencing test will be performed on the stored RNA sample. If a JAK2 V617F mutation (>0.6%) is detected, the algorithm stops and 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. The following algorithms are available in Special Instructions.

Reference Range Information
Performing LocationReference Range
​Mayo Clinic Laboratories​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.​

For more information visit:
Performing Laboratory Information
Performing LocationDay(s) Test PerformedReport AvailableMethodology/Instrumentation
​Mayo Clinic Laboratories​Monday through Friday​7 to 10 days​Allele-Specific Polymerase Chain Reaction (AS-PCR) and Sanger Sequencing
Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPTModifier
(if needed)
QuantityDescriptionComments
​81270​JAK V617
​0027U​if appropriate
For most current information refer to the Marshfield Laboratory online reference manual.