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Physicians perform an array of tests to diagnose CML. The three main tests doctors use include blood tests, bone marrow aspirates/biopsies, and testing for the Philadelphia chromosome.
Blood Tests
Blood tests can show whether the numbers of various components of an individual's blood are within the normal range. Doctors perform a complete blood count to detect abnormalities in a patient's levels of white cells, which fight infection, red cells, which carry oxygen, and platelets, which are crucial to blood clotting.
Bone Marrow Aspirates & Biopsies
Doctors typically perform bone marrow studies, including a bone marrow aspirate and biopsy, to establish a diagnosis of CML and later on to monitor a patient's response to treatment. These tests are the cornerstone of diagnosing and monitoring CML.
During a bone marrow aspirate, the patient lies on his or her stomach. The skin above the hip bone (called the iliac crest) is cleaned and numbed with novocaine. A very thin needle is then inserted into the hip bone and small particles are removed and sent for testing. This is called a bone marrow aspirate. A biopsy can be performed at the same time, using a separate needle to remove a core of bone.
Chromosome Testing
Doctors examine bone marrow and blood samples using standard genetic tests called karyotyping, FISH (fluorescence in situ hybridization), and PCR (polymerase chain reaction). Karyotyping examines the appearance of the chromosomes in dividing cells and is done on the bone marrow. FISH and PCR tests can be conducted using peripheral blood (blood circulating in the body).
Karyotyping is a test that can show structural changes in the chromosomes. FISH is a technique used to determine the percentage of cells with the bcr/abl fusion gene. PCR is a laboratory method used to make many copies of a specific DNA sequence, and is the most sensitive method for detecting the presence of diseased cells.
