Polycythemia Vera Blood Test

What is Polycythemia Vera?

Polycythemia Vera is a rare, slow-growing blood cancer where the bone marrow produces too many red blood cells. It is caused by a JAK2 V617F genetic mutation that triggers abnormal blood cell production. The JAK2 V617F Mutation Analysis is the most important test for diagnosis as it detects this mutation in nearly all patients with the condition.

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What causes Polycythemia Vera?

Polycythemia Vera is caused by a mutation in the JAK2 gene, specifically the V617F mutation, which is present in approximately 95% of patients with this condition. This genetic mutation causes the JAK-STAT signaling pathway to become constantly active, leading your bone marrow to produce excessive numbers of red blood cells without normal regulation. The result is thickened blood that flows more slowly through your vessels, increasing the risk of dangerous blood clots that can cause strokes, heart attacks, or deep vein thrombosis.

What is the best test for Polycythemia Vera?

The JAK2 V617F Mutation Analysis is the most important test for Polycythemia Vera because it detects the specific genetic mutation responsible for nearly all cases of this blood cancer. This test directly identifies the JAK2 V617F mutation that causes your bone marrow to overproduce red blood cells, providing definitive genetic evidence of the disease. The Viscosity, Serum test is also essential as it measures how thick your blood has become due to excess red blood cells, helping doctors assess disease severity and monitor treatment effectiveness. Together, these tests confirm the diagnosis and guide your treatment plan.

When should I get tested for Polycythemia Vera?

You should get tested if you experience unexplained symptoms such as persistent headaches, dizziness, itching after warm baths or showers, unusual fatigue, or vision problems. Testing is also important if routine blood work shows elevated red blood cell counts, hemoglobin, or hematocrit levels that cannot be explained by other conditions. You should seek testing immediately if you have a family history of blood disorders or if you develop symptoms of blood clots like chest pain, leg swelling, or sudden shortness of breath, as these complications can be life-threatening without proper diagnosis and treatment.

What are the symptoms of Polycythemia Vera?
Polycythemia Vera symptoms develop gradually and include headaches, dizziness, blurred vision, and ringing in the ears caused by thickened blood flowing poorly through small vessels. Many people experience intense itching, especially after taking a warm bath or shower, due to increased histamine release from excess blood cells. You might also notice unusual fatigue, night sweats, unexplained weight loss, and a ruddy or reddish complexion, particularly in your face. Some people develop an enlarged spleen that causes abdominal fullness or discomfort on the left side.
Who is at risk for Polycythemia Vera?
Polycythemia Vera typically affects people over age 60, though it can occur at any age, and men are slightly more likely to develop it than women. The condition is not usually inherited, as the JAK2 mutation typically occurs spontaneously during a person's lifetime rather than being passed down from parents. Your risk is higher if you have been exposed to certain environmental factors like radiation or toxic chemicals, though most cases have no identifiable external cause. People of Jewish ancestry appear to have a slightly elevated risk compared to other populations.
What happens if Polycythemia Vera is left untreated?
Untreated Polycythemia Vera leads to dangerous complications from abnormally thick blood that cannot flow properly through your vessels. Blood clots become increasingly likely and can cause strokes, heart attacks, pulmonary embolism, or deep vein thrombosis, which are potentially fatal. The enlarged spleen may rupture or cause severe abdominal pain, and excessive bleeding can occur paradoxically because the abundance of blood cells actually impairs normal clotting function. Over time, untreated disease can progress to acute leukemia or develop into myelofibrosis, where scar tissue replaces bone marrow, causing severe anemia and organ failure.
Can Polycythemia Vera be diagnosed with a blood test?
Polycythemia Vera can be definitively diagnosed with blood tests, specifically the JAK2 V617F Mutation Analysis which detects the genetic mutation present in nearly all patients. A complete blood count will show elevated red blood cells, hemoglobin, and hematocrit levels that initially raise suspicion for the condition. The Viscosity, Serum test measures how thick your blood has become, providing additional evidence of disease severity. Your doctor may also order additional tests like serum erythropoietin levels, which are typically low in Polycythemia Vera, to distinguish it from other causes of elevated red blood cells.
How is Polycythemia Vera treated?
Polycythemia Vera treatment focuses on reducing red blood cell numbers to thin the blood and prevent clots through a procedure called phlebotomy, where blood is regularly removed similar to blood donation. Low-dose aspirin is typically prescribed to reduce clotting risk, while medications like hydroxyurea can suppress bone marrow production of excess blood cells in high-risk patients. Newer targeted therapies like ruxolitinib specifically block the abnormal JAK2 signaling pathway, addressing the underlying genetic cause. Treatment is lifelong and individualized based on your age, symptoms, and risk factors for blood clots.
How can I prevent Polycythemia Vera?
Polycythemia Vera cannot be prevented because it results from a spontaneous genetic mutation that occurs during your lifetime rather than being caused by lifestyle factors. The JAK2 V617F mutation happens randomly in bone marrow cells, and there are no known dietary changes, supplements, or behaviors that can stop this from occurring. However, once diagnosed, you can prevent dangerous complications by maintaining regular treatment, attending all scheduled appointments, staying well-hydrated to help thin your blood, and avoiding smoking which further increases your already elevated clot risk.
What can I do at home for Polycythemia Vera?
At home, you can support your treatment by drinking plenty of water throughout the day to help keep blood less viscous and flowing more easily. Apply cool compresses or take lukewarm baths instead of hot ones to reduce the intense itching that often accompanies this condition, and avoid scratching which can damage skin and increase infection risk. Elevate your legs when sitting to promote blood flow and reduce clot risk, and perform gentle exercises like walking to maintain circulation. Avoid iron supplements unless specifically prescribed, as extra iron can worsen red blood cell overproduction, and monitor yourself for signs of blood clots like sudden leg pain or chest discomfort that require immediate medical attention.
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If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com and we'll gladly help you.
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JAK2 V617F Mutation Analysis
Google reviews 505 reviews
$2,098 $1,636
What's included
Fast & easy, results by email & SMS
No need to visit a doctor
Private & confidential
No insurance needed
Results explained
No extra fees paid at the lab

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