Full blood count (FBC) and differential
These are routine tests that are requested to count the number and relative proportion of each of the different types of cells in the blood stream. They give your doctor information about the size, shape, and relative maturity of the blood cells present. FBCs and differentials are snapshots of what is happening in the body at the time the blood is taken. They are used to detect cell abnormalities, determine their importance, help diagnose their cause, and monitor their course and response to treatment. Irregularities in cell counts, such as elevated WBC counts or low RBC counts, may be due to bone marrow disorders, but they may also be due to a variety of other temporary or chronic conditions.
Bone marrow aspiration/biopsy
If your doctor suspects a bone marrow disorder, he will often use a bone marrow aspiration or biopsy to actually look at the cells and tissue in the marrow.
When a doctor examines the sample from your bone marrow under the microscope, the person can see the number, size, and shape of your red and white blood cells and platelet precursors (megakaryocytes), determine the proportions of mature and immature cells, see any overgrowth of fibrous tissue, and detect any cancer cells from cancers that may have spread to the marrow. Most bone marrow disorders can be diagnosed during this examination.
Iron storage can also be estimated by a marrow examination, although if iron deficiency is suspected,blood tests are more usually requested (ferritin, iron and total iron binding capacity), only resorting to a marrow test when the results are unclear.
Flow cytometry (often called “cell markers”) is a technique that may be used to measure cell surface antigens from the bone marrow, peripheral blood, or other body fluids. The technique involves incubating cells in liquid suspension after they have been given a fluorescent tag. An instrument called a flow cytometer is then used to count and examine the cells for abnormalities.
These tests look at several different types of genetic abnormalities in bone marrow cells or circulating white blood cells, including:
Karyotyping: looks for chromosomal abnormalities, for example translocation, in which part of the chromosome is transferred to different a location, often to a different chromosome. Specific abnormalities are associated with e.g. chronic myeloid leukaemia, Burkitt's lymphoma, and many other leukaemias and lymphomas
single gene changes; these are seen in some lymphomas and haemoglobin disorders
clonal populations of white blood cells; where many replicas of a particular WBC are produced. These provide diagnostic evidence for several myelodysplastic syndromes and leukaemias.
Techniques involve removing the DNA from a specific cell population in the bone marrow or the blood, manipulating the DNA to find the correct gene, and then using special tests that look for one of the abnormalities listed above in the isolated gene.
Lumbar puncture (spinal tap)
If Leukaemia is found in the bone marrow, a lumbar puncture may be performed by the doctor as a follow-up test to look for leukaemic cells in the cerobrospinal fluid.
X-rays are sometimes used to look for signs associated with some bone marrow diseases, such as masses of cells in areas like the chest, spleen, and liver.