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JAK2 V617F Mutation Study
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General
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Clinical Use:
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This test is offered as a frontline screening test for suspected myeloproliferative neoplasms (MPN). Detection of the JAK2 V617F (1849G>T or Val617Phe) is highly suggestive of a clonal MPN, reliably excluding a reactive or secondary process. This mutation occurs in approximately 97% of polycythemia vera (PV) cases and about 50% of cases of essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). It has also been found in rare cases of atypical MPNs (CMML, HES, SM), MDS and AML.
Note, the absence of this mutation does not exclude an MPN.
This assay is not performed for minimal residual disease detection. |
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Availability:
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Samples are batched and tested once a week. |
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Code:
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HJAK2 |
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Handling Instructions (to laboratory):
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Send sample ambient. |
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Hyperlink:
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Reference Interval:
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Collection Requirements
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Container:
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EDTA (LAVENDER), |
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Sample Type:
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Blood; Bone Marrow |
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Minimum Collection Volume:
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Collection Instructions:
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Processing Requirements
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Alternate Containers:
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Processing Instructions:
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Store sample ambient. |
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Minimum Assay Volume:
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3mL Blood; 1mL Bone Marrow |
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Stability:
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Transport Instructions (to testing laboratory):
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Send sample ambient. |
Testing Locations
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Performed at:
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Section
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Department
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Site
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Contact Phone
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| Molecular |
Haematology |
Fiona Stanley Hospital |
6152 8118 |
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Last Updated : 11-07-2024 09:55 |