Leukemia Diagnosis

A leukemia diagnosis usually starts with a simple blood test, called a complete blood count. A doctor may order this blood test after evaluating the patient’s symptoms. Other times, the test is part of a routine doctor’s appointment.

If the test shows abnormal levels of red blood cells, white blood cells or platelets or the presence of leukemia cells, your doctor will order a bone marrow biopsy. This requires taking a sample of bone marrow from the hip with a needle and then looking for the presence of disease.

A lumbar puncture, also known as a spinal tap, may also be performed to determine whether leukemia cells are located in the spinal fluid. This is most common in ALL, but can occur in any type of leukemia. During this procedure, health care professionals use a needle to remove cerebrospinal fluid from the spine. The care provider may also administer a small dose of chemotherapy into the spinal fluid in order to kill leukemia cells that may be present.

Doctors can order additional tests to determine whether certain chromosomes or gene mutations are present in the diseased cells, or if they have specific proteins or molecules on their surface. This information can help doctors determine the patient’s type of leukemia, the prognosis and design a treatment plan with the best chance of success.

Some cases of leukemia can be passed down from one generation to the next. Genetic counseling may be right for you. Learn more about the risk to you and your family on our genetic testing page.