JAK2 Exon 12 Mutation Analysis

Specimen Required

9cc EDTA Blood (3 CBC Vials)

Fasting Required

Purpose of the Test

The JAK2 Exon 12 test is a genetic test that is used to detect mutations in the JAK2 gene. This test is performed to diagnose and monitor certain blood disorders, including polycythemia vera (PV) and essential thrombocythemia (ET).

When this test is required

The JAK2 Exon 12 test is typically requested by a healthcare provider when a patient presents with symptoms such as fatigue, weakness, headaches, and dizziness, which may be signs of PV or ET. The test may also be ordered for patients who have a family history of these conditions or who have been previously diagnosed with PV or ET.

What the Test Detects

The JAK2 Exon 12 test is a genetic test used to detect mutations in the JAK2 gene, specifically in exon 12. The JAK2 gene provides instructions for making a protein that plays a crucial role in the production and function of blood cells. Mutations in the JAK2 gene can cause overproduction of blood cells, leading to conditions such as polycythemia vera (PV) and essential thrombocythemia (ET).

Preparation for the Test

It is important to note that while the JAK2 Exon 12 test is a useful tool for diagnosing and monitoring PV and ET, it is not the only test that may be required. Additional tests, such as a bone marrow biopsy, may be needed to confirm the diagnosis and determine the extent of the disease. Patients should discuss any concerns or questions they have with their healthcare provider, who can provide more information about the test and what it involves.

Sample Requirements

To perform the JAK2 Exon 12 test, a sample of blood is collected from the patient. No special preparation is typically required for this test, although patients should inform their healthcare provider if they are taking any medications that may affect the results.

Additional Notes

It is important to note that the JAK2 Exon 12 test is just one of several tests that may be used to diagnose PV and ET. Other tests, such as a complete blood count (CBC) and bone marrow biopsy, may also be required. Patients should discuss any concerns or questions they have with their healthcare provider, who can provide more information about the test and what it involves. It is also important to note that genetic testing can have emotional and psychological implications, and patients may wish to discuss these issues with a genetic counselor before undergoing testing.

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