Diagnosing Leukemia

Accurate diagnosis is essential for determining the best treatment for your type and stage of leukemia.

Fox Chase’s hematopathologists—pathologists who specialize in the diagnosis of blood cancers—have specific expertise properly diagnosing leukemia and other blood cancers. These specialists are not available at all healthcare centers and are most often found at comprehensive cancer centers.

Diagnosis of leukemia typically requires various blood tests and a bone marrow aspiration and biopsy. Molecular and genetic tests may also be used to gather more information, including prognosis and appropriate treatment options.

Blood Tests

A complete blood count (CBC) measures the levels of red and white blood cells and platelets in your blood and checks for abnormalities. The CBC is often done along with a differential, which looks at the numbers of all the different types of white blood cells and checks whether the counts are in balance with each other.

A comprehensive metabolic panel measures 14 substances in your blood. It provides key details about how well your organs are working and whether any problems detected could be related to a blood disease or cancer. A peripheral blood smear involves checking a sample of blood for immature cells and for changes in the numbers and appearance of different types of blood cells.

Blood tests may show the presence of leukemia, though not all types of the disease cause leukemia cells to circulate in the blood; sometimes they remain in the bone marrow. Your doctor can also test you for autoimmune hemolytic anemia and check for high levels of lactic acid, uric acid, lactate dehydrogenase (LDH) and other proteins, which can all be signs of different types of leukemia.

Another standard blood test for diagnosing leukemia is to look for coagulopathy, or impairment in blood clotting. These tests measure how long it takes blood to clot and how much blood protein the liver is producing.

Bone Marrow Tests

Because leukemia starts in the bone marrow, your doctor will conduct bone marrow tests to confirm the disease. These tests include aspiration (removing a small amount of liquid bone marrow with a thin, hollow needle) and a biopsy (removing a core sample of bone with a slightly wider needle).

Bone marrow aspiration and biopsy are often performed at the same time, with samples usually taken from the back of the hip bone.


Immunophenotyping uses antibodies to detect the presence or absence of white blood cell antigens, which are proteins found on the surface of white blood cells. These antigens are called biomarkers and can be targeted in AML treatment.

Immunophenotyping can detect subtle differences between different types of blood cancers and can help diagnose AML specifically. The tests used are called flow cytometry and immunohistochemistry, which involve treating samples of cells with a light-sensitive dye or adding a chemical marker before studying the cells and measuring their numbers, size, and appearance.

Genetic Testing

The presence of leukemia can often cause abnormal changes in chromosomes and genes. Genetic tests for these changes may assist with diagnosis and prognosis, and include:

  • Cytogenetic Testing: For these tests, the cells in a sample of blood, tissue, or bone marrow are viewed under a microscope to look for broken, missing, rearranged, or extra chromosomes. The lab tests for chromosome assessment include karyotyping and fluorescence in situ hybridization.
  • Molecular testing: This involves testing of genes or the proteins they produce to identify the presence or absence of mutations and certain proteins that might affect treatment. Molecular testing includes a very sensitive lab process called polymerase chain reaction that can pinpoint one leukemia cell among more than 100,000 cells.

Other Testing

Additional tests that may be used as part of the diagnostic process for leukemia include:

  • A physical exam
  • A review of the patient’s medical history
  • Imaging tests
  • Spinal fluid tests
  • A lumbar puncture

How Soon Can I Expect a Report?

It usually takes at least a few days to receive your test results, although the time varies for different tests and for each patient. Your physician will provide you with your results as soon as possible, along with a thorough explanation of your diagnosis and answers to any questions you have. At that time, your physician will also recommend a treatment plan tailored to your diagnosis.

Leukemia Staging

The stage of a patient’s leukemia is often determined by their blood cell counts, chromosome mutations and abnormalities, and whether certain organs have been affected by their disease.

The categorization of a patient’s leukemia also depends on what cells it developed from and whether it is fast growing or slow growing.

What if I Have Already Been Diagnosed at Another Hospital?

If you or someone you love has been diagnosed with leukemia, you may want to start treatment as soon as possible. But it is often a good idea to get a second opinion on your diagnosis and treatment options.

At Fox Chase, we routinely offer second opinions, which could help identify new treatment options that might be more effective for your specific leukemia. In fact, it is common to seek a second opinion for a cancer diagnosis, and some insurance companies even require it.

Receiving a second opinion at Fox Chase also means you’ll likely have greater access to clinical trials appropriate for your condition. Our designation as a comprehensive cancer center by the National Cancer Institute means that we are part of a network of research centers where hundreds of clinical trials take place every day.

If you decide to seek a second opinion at Fox Chase, our nurse navigators will help you gather the information needed for your first appointment. Our specialists will review your test results, imaging, and medical history thoroughly to determine your diagnosis and recommended treatment plan.

Your Patient Care Team at Fox Chase

To design an individualized care and treatment plan, our leukemia care team draws on the diverse experience of specialists in hematologic oncology, hematopathology, and bone marrow transplantation. We work together to diagnose your cancer and help you make informed decisions about your treatment.

Your dedicated team also includes nurse navigators, social workers, and other specialized support staff. As a key part of your care team, they will provide emotional support and coping strategies for you and your family when you need them most. At Fox Chase, we take enormous pride in providing world-class care for our patients with leukemia.