Leukemia Testing and Diagnosis

Screening Tests for Leukemia

There is no screening test for leukemia for people of average risk. Enlarged lymph nodes, liver or spleen, or areas of bleeding or bruising are usually the first signs.

To diagnose leukemia, you will need to have samples of cells taken from your blood and bone marrow. A pathologist, a physician who specializes in checking tissue samples, uses a microscope to see if the cells are cancer. Fred Hutch pathologists are experts in diagnosing leukemia.

Diagnostic Tests for Leukemia

If your physician suspects you may have leukemia, they will want to perform a thorough physical examination and talk with you about your medical history. During the exam, your physician will check for signs of leukemia, such as swollen or enlarged lymph nodes or spleen.

An accurate diagnosis of leukemia requires several tests. You might have any or all of these:

• Blood tests — to check the type, number, size, shape and appearance of blood cells (complete blood count and peripheral blood smear) and to see if leukemic cells are present, which type they are and whether they show signs of slow-growing or more aggressive disease (immunophenotyping, or flow cytometry).
• Bone marrow tests — taking samples of bone marrow and a small piece of bone from your pelvis using a needle (bone marrow aspiration and biopsy) and checking them for leukemic cells.
• Chromosome tests — checking your blood or bone marrow cells for changes in chromosomes, such as an abnormal number of chromosomes or two chromosomes that have exchanged some DNA. These tests include cytogenetic analysis, fluorescent in situ hybridization and polymerase chain reaction.
• Lumbar puncture — taking a sample of cerebrospinal fluid from your spine with a needle to check whether leukemia has spread to your spinal cord and brain.
• Imaging tests — such as chest X-ray, computed tomography (CT) scan, magnetic resonance imaging (MRI) scan or ultrasound to check whether leukemia is impacting other parts of your body.