You might have a number of tests to investigate your symptoms and confirm a diagnosis of leukaemia, including:

• medical history and physical examination
• blood tests for blood cell counts, and for examination of blood cells under a microscope and other laboratory tests
• bone marrow aspiration and biopsy, where a sample of bone marrow is taken, usually from the pelvis, to be examined under a microscope; the bone marrow may also be analysed using other laboratory tests
• chromosome testing – the genetic changes that occur in leukaemia often involve chromosome changes, which can be seen under a microscope or using laboratory tests
• lumbar puncture, where a sample of cerebrospinal fluid is removed from near the spinal cord using a needle, to check for spread of the leukaemia to this area
• imaging tests, such as X-rays, computed tomography (CT) scan, magnetic resonance imaging (MRI) scan, ultrasound or bone scan; however, since leukaemia does not usually form tumours, these tests are more often used to look for infections or other problems rather than for diagnosis of leukaemia.
• lymph node biopsy; however, this is rarely part of the diagnosis of leukaemia

Many people with a chronic form of leukaemia (CLL and CML) do not have symptoms when it is diagnosed. Instead, the leukaemia is detected during blood tests for other reasons.

Staging

Staging of other types of cancer is based on the size of the tumour and how far the cancer has spread in the body. Since tumour masses do not usually form in leukaemia, and the cancer spreads throughout the bone marrow (and often to other sites), different systems are used to classify leukaemia. They include systems based on:

• subtypes of the leukaemia – for example
  • ALL is divided into subtypes based on the type of lymphocyte that the leukaemia cells come from, and the unique set of proteins on the surface of the cells (the immunophenotype)
  • AML is divided into subtypes based on the type of genetic abnormality in the leukaemia cells, among other criteria
• whether the lymph nodes, spleen or liver are enlarged, and levels of different types of blood cells in the blood (used for CLL)
• the number of immature white blood cells (myeloblasts) in the blood or bone marrow, as well as the severity of symptoms (used for CML).

The extent to which the leukaemia has spread in the body and differences between patients that affect how well they will respond to treatment are also taken into account when treatment options are being considered.