![]() About 2-3 percent of PV patients have the JAK2 exon 12 mutation.įor more information about bone marrow tests and other lab tests, please see the free LLS publication Understanding Lab and Imaging Tests.Ĭriteria for Diagnosing Polycythemia Vera If a patient does not have a JAK2 V617F mutation, then testing should be done for other mutations. The JAK2 V617F mutation is found in more than 95 percent of PV patients. If PV is suspected, testing for the JAK2 gene mutation should be performed. DNA sequencing can be done with blood or bone marrow samples. By comparing the sequence of DNA in cancer cells with the DNA in normal cells, doctors can find genetic changes that are unique to the cancer cells and may be driving the growth of the patient’s cancer. ![]() PCR testing can be done with blood or bone marrow samples.ĭNA sequencing: DNA sequencing refers to a number of different laboratory tests that examine the exact sequence (order) of DNA. It looks for the presence or absence of specific gene mutations. PCR testing basically amplifies (increases) small amounts of specific pieces of DNA so that they are easier to detect and measure in a cell sample. Polymerase chain reaction (PCR): This is a very sensitive test used to detect and measure specific genetic mutations that are too small to be seen with a microscope. They are used for diagnosis and treatment planning. These tests look for abnormal changes in the genes, chromosomes, proteins or other molecules within the patient’s cancer cells. The pathologist also examines the chromosomes of the bone marrow cells to rule out other blood diseases. ![]() In PV, the bone marrow shows above-normal numbers of blood cells and an abnormal number of the platelet-forming cells called “megakaryocytes” in the bone marrow. A bone marrow biopsy to remove a small amount of bone filled with marrow.A bone marrow aspiration to remove a liquid marrow sample.Your doctor may examine your bone marrow even though the test isn't needed to diagnose PV.īone marrow testing involves two steps usually performed at the same time in a doctor's office or a hospital: Results of EPO tests can be used to help diagnose PV. In people with PV, high red blood cell counts can suppress EPO levels. EPO is a hormone primarily made in the kidneys to stimulate the production of new red blood cells. This test measures the level of erythropoietin (EPO) in the blood. The test findings indicate how well a person’s kidneys, liver and other organs are working. Although this test is not used to diagnose PV, if the results show that there is an abnormal amount of a particular substance in the blood, it may be a sign of disease or some other health problem. These substances include electrolytes (such as sodium, potassium and chloride), fats, proteins, glucose (blood sugar), uric acid and enzymes. Blood Chemistry Profile: This blood test measures the levels of certain substances released into the blood by organs and tissues in the body.This test is infrequently performed in the United States due to high cost, difficulty obtaining the appropriate test materials, and the advent of new blood tests such as molecular testing. In patients with PV, there may be an absolute increase in red blood cell mass. Red Cell Mast Test: This procedure is used to measure the volume (amount) of red blood cells in relation to the volume of plasma (fluid) in whole blood.Increased white blood cells and platelets.People with PV have high red blood cell counts. It also measures the amount of the iron-rich protein that carries oxygen in red blood cells and the percent of whole blood made up of red blood cells (the hematocrit). Complete Blood Count (CBC) with Differential: This test measures the number of red blood cells, white blood cells and platelets in a sample of blood.Examine the patient's body for signs of disease.Listen to the patient's heart and lungs.During the physical examination, the doctor may: History of thrombus (blood clot) or a hemorrhagic event (loss of blood from damaged blood vessels)Īfter the medical history, the doctor will conduct a physical examination.Current and past medications and treatments.The medical history should include information about the patient’s: It is important to have an accurate diagnosis, as it helps the doctor to:Įvaluation of an individual with suspected PV should start with a detailed medical history and a physical examination. While certain signs and symptoms may indicate that a person has PV, a series of tests are needed to confirm the diagnosis. The Trish Greene Back to School Program.
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