How are Blood Cancers Diagnosed?

Reviewed by: HU Medical Review Board | Last reviewed: February 2018

If a person is suspected to have a type of blood cancer, there are several tests that will typically be run. Some of the tests can rule out other conditions that can also cause some of the general symptoms of blood cancer, and other tests are used to determine the specific type of blood cancer a person has. The subtype of cancer is important as it helps inform treatment recommendations.1

How are blood cancers diagnosed?

Medical history

A medical history generally consists of written and verbal questions to understand the symptoms the patient is experiencing and how long the symptoms have been present. Some of the questions in a medical history will cover the health history of close family members, any medications or dietary supplements the person may be taking, previous surgeries, previous or current illnesses, allergies, immunizations, and any exams or tests that have already been run.1,2

Physical exam

The physical exam includes a visual inspection (looking), palpation (feeling), auscultation (listening, often with a stethoscope), and percussion (producing sounds through tapping) to examine the patient's body for potential signs of disease.3 During the visual inspection, the physician will look for signs such as unusual bleeding, bruising, or any changes on the skin. The doctor will also feel areas of the body to detect any changes in certain areas and note whether they are hard, soft, or painful to touch. For example, some blood cancers can cause lymph nodes, the spleen, or the liver to swell.1

Blood tests

There are several blood tests that may be run to diagnose blood cancer and rule out other conditions:

  • A complete blood count (CBC) is a commonly performed lab test that measures the number of red blood cells (RBCs), white blood cells (WBCs), and platelets, and gives the amount of hemoglobin in the blood (hemoglobin is the protein in RBCs that carries oxygen), and the percentage of blood that is RBCs, called the hematocrit. Sometimes, a CBC includes a differential, which measures the five different types of WBCs.5
  • A peripheral blood smear is a test that may be run as a follow-up if there are abnormal results on the CBC.The blood smear will include a description of the appearance of RBCs, WBCs, and platelets, as well as any abnormalities that may be present.4,5
  • Blood chemistry, which may also be called a chemistry panel, is commonly performed to measure a person's health status. Abnormal levels of certain elements in the blood (like electrolytes and some proteins) may be caused by cancer, but they can also be indicators of other health problems.1,4
  • Blood clotting tests measure if blood coagulates (clots) normally. Clotting is a function of the platelets and proteins called clotting factors. Some blood cancers can reduce the number of platelets and cause frequent bruising or bleeding, and blood clotting tests can help determine if the bruising and bleeding is due to cancer or another cause.1,4


Urinalysis is an analysis of the urine. This test is often performed for a variety of reasons, including to check on kidney function, evaluate for the presence of diabetes, or to help diagnose a urinary tract infection.6,7 Urinalysis may be performed during the diagnosis or treatment planning stage to help evaluate kidney function. It may also be used during treatment or after treatment is completed to help assess kidney function and general health.8

Lymph node biopsy

Some blood cancers require a lymph node biopsy to confirm diagnosis. A biopsy is a procedure in which a sample of tissue is removed from the body for examination under the microscope. In a lymph node biopsy, a lymph node or a part of one is removed through a surgical procedure. In some cases, a biopsy sample can be taken with a needle, however, the results are typically more conclusive with an open (surgical) biopsy.6

Bone marrow aspiration and biopsy

Blood cancers often affect both the blood and the bone marrow, and a bone marrow aspiration and biopsy are generally needed to diagnose blood cancer. The bone marrow aspiration and biopsy are samples of bone marrow that are taken usually from the hip (pelvic) bone. The aspiration uses a large, hollow needle to remove some of the liquid bone marrow. Although anesthetic (pain relief) is used, most patients experience some pain for a brief time when the marrow is removed. The bone marrow biopsy is done at the same time with a large needle that is twisted in to remove a small piece of bone, as well as marrow. Patients usually feel pressure and tugging and may experience some brief pain.1,9

Genetic testing

Cytogenetic testing, also called karyotyping, determines any potential chromosomal abnormalities or mutations in a blood cancer. These tests are helpful in diagnosis, prognosis, selecting appropriate treatment, and monitoring treatment effectiveness. Two additional types of genetic tests are polymerase chain reaction (PCR) and fluorescent in situ hybridization (FISH). Both PCR and FISH do not look at overall chromosomal changes but can be helpful in detecting specific, known genetic mutations.1

Flow cytometry

Flow cytometry is a test used to identify cells based on the types of antigens or markers on their surface. Flow cytometry uses a laser to measure multiple characteristics of cells. A dye is used on a blood sample to stain cells with specific antigens, allowing doctors to easily identify cancer cells under a microscope.1,4

Spinal tap

A spinal tap, also known as a spinal fluid test or lumbar puncture, is a procedure to collect a sample of the cerebrospinal fluid - the fluid that surrounds the brain and spinal cord and acts as a cushion. The fluid is collected from the lumbar region of the back while the patient typically lies on their side with their knees pulled up to their chest.6 A spinal tap may be performed to see if blood cancer has spread to the cerebrospinal fluid.1

Imaging tests

Imaging tests are a variety of assessments that use medical equipment to create pictures of the body. There are several different imaging tests that may be used during diagnosis or staging of blood cancer, including:

  • A chest x-ray takes an image of the chest, lungs, heart, large arteries, ribs, and diaphragm, and it may be used if a doctor suspects a lung infection1,6
  • A computed tomography (CT) scan uses special x-ray equipment to make cross-sectional views of the inside of the body and may be used to see if blood cancer has spread to specific organs, such as the spleen1,6
  • A magnetic resonance image (MRI) uses powerful magnets and radio waves to generate pictures of the internal structures of the body and may be used to examine the brain or spinal cord1,6
  • Ultrasound uses high-frequency sound waves to produce an image. Ultrasound can be useful in viewing lymph nodes or potentially enlarged organs in the abdomen, like the kidneys, liver, or spleen1,5

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