Myeloproliferative Neoplasm, JAK2 V617F with Reflex to CALR and MPL, Varies
Use
This reflex test is mainly used to help in the distinction between reactive cytosis and a chronic myeloproliferative disorder. It evaluates for variants in JAK2, CALR, and MPL genes using an algorithmic approach. The presence of JAK2 V617F variant is found in a high percentage of patients with specific myeloproliferative neoplasms such as polycythemia vera, primary myelofibrosis, and essential thrombocythemia. A CALR variant is associated with decreased thrombosis risk in both ET and PMF and confers a favorable clinical outcome in PMF.
Special Instructions
It is essential to provide pertinent clinical history, clinical or morphologic suspicion, date of collection, and specimen source. Specimen must arrive within 7 days of collection. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request with the specimen.
Limitations
A positive result does not specify a particular subtype of myeloproliferative neoplasm and necessitates clinicopathologic correlation in all cases. A negative result does not exclude the presence of a myeloproliferative neoplasm or other neoplastic processes. Variants other than JAK2 V617F may be present in areas that interfere with primer or probe binding, potentially causing false-negative results. Interpretation requires correlation with a concurrent or recent prior bone marrow evaluation in certain clinical scenarios.
Methodology
PCR-based (qPCR)
Biomarkers
LOINC Codes
- 22637-3
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
0.5 mL
Container
Lavender top (EDTA) or yellow top (ACD solution B)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Label specimen as blood.
Storage Instructions
Ambient (preferred)/Refrigerate 7 days
Causes for Rejection
Gross hemolysis; Paraffin-embedded bone marrow aspirate clot or biopsy blocks; Slides; Paraffin shavings; Moderately to severely clotted
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 7 days |
