What is being analysed?

The JAK2 mutation test is a diagnostic test used to detect mutations in the Janus kinase 2 (JAK2) gene. This gene encodes a protein involved in signalling pathways that regulate blood cell production. Mutations in the JAK2 gene are commonly associated with myeloproliferative neoplasms (MPNs), such as polycythaemia vera, essential thrombocythemia, and primary myelofibrosis.

What does the result mean?

A positive result indicates the presence of a mutation in the JAK2 gene, which may support a diagnosis of an MPN. A negative result suggests the absence of detectable mutations, although it does not completely rule out the possibility of an MPN.

Why is the test performed?

The test is performed to aid in the diagnosis and classification of MPNs, guide treatment decisions, monitor disease progression, and assess response to therapy.

When should the test be done?

The test is typically performed when a healthcare provider suspects an MPN based on clinical symptoms, blood tests, or other diagnostic findings.

What sample is required?

A sample of peripheral blood or bone marrow is usually collected for analysis.

Is any prior preparation necessary?

No specific preparation is typically required before undergoing JAK2 mutation analysis.

What are the normal values?

What does having altered values mean?

• Positive result: Presence of a mutation in the JAK2 gene suggests a high likelihood of an MPN, such as polycythaemia vera, essential thrombocythemia, or primary myelofibrosis.
• Negative result: Absence of detectable mutations does not rule out the possibility of an MPN, as other genetic mutations or factors may contribute to the disease.

By analysing JAK2 mutations, doctor can better understand the underlying molecular mechanisms driving MPNs, leading to more precise diagnosis and management strategies for affected individuals.