JAK-2 Mutation (CMPD) Exon 12 Mutation Blood

The JAK-2 Mutation (CMPD) Test examines mutations in exon 12 of the JAK2 gene to identify any alternative genetic abnormalities that may be responsible for PV in your blood.

• To confirm the diagnosis of polycythemia vera (PV) when another genetic mutation test is negative • To identify suspected cases of PV • To evaluate patients with symptoms like excessive production of red blood cells • To assess the need for treatment and monitor its effectiveness

The JAK-2 Mutation (CMPD) Test is recommended for individuals who • show symptoms of polycythemia vera, such as fatigue, headaches, or shortness of breath, • have an inconclusive genetic mutation test for PV, or • require confirmation of the diagnosis before starting treatment.

Typically, a positive result for the JAK-2 Mutation (CMPD) Test indicates the presence of the Jak2 V617F gene mutation, confirming the diagnosis of polycythemia vera (PV). Abnormal results should be discussed with your doctor.

During the test, 3–5 ml of your blood will be collected using an EDTA tube. The sample will be sent to the laboratory for processing.

• Your doctor may provide specific instructions regarding fasting or discontinuing certain medications before the test. • Inform your doctor if you have any specific requirements.

• Complete Blood Count (CBC): Measures the levels of different blood cells to check for abnormalities or imbalances • Bone Marrow Biopsy: Involves extracting a small sample of bone marrow to assess its composition and detect any abnormalities • Erythropoietin Level: Measures the hormone erythropoietin in your blood to evaluate its role in red blood cell production

Jak2 V617F mutation test

Polycythemia vera (PV) is a disorder characterised by the overproduction of red blood cells in your body. This leads to an increased thickness of the blood and can cause complications such as blood clots, strokes, and heart attacks.