Diagnostic testing for multiple myeloma is made up of blood tests, urine tests and bone or bone marrow tests. The various types of tests and procedures used to diagnose multiple myeloma include:
Blood cell count
This test provides a complete blood cell count (counts the number of red blood cells, white blood cells, and platelets, and the relative proportion of white blood cells compared to the rest of the blood cells). This can help determine how much the multiple myeloma is interfering with the normal production of blood cells in the bone marrow. Low blood cell levels may signal the presence of anemia (due to decreased red blood cell number), increased risk of infection (may occur due to low white blood cell number), and decreased ability of blood to clot if a wound occurs (this can happen when platelet numbers are low).
This set of tests measures levels of albumin, calcium, lactate dehydrogenase [LDH], blood urea nitrogen [BUN], and creatinine in the blood. The results are used to assess how well the kidneys and liver are functioning, and also can indicate bone status (bone loss due to multiple myeloma) and extent of disease.
Beta2-microglobulin (ß2-M) level
This test determines the level of the beta2-microglobulin protein in the blood. This protein can indicate the presence and the extent of multiple myeloma and also is an indicator of kidney function. Higher B2M levels can indicate that more extensive disease is present, which helps your doctor determine the stage of the disease
Antibody (immunoglobulin, or Ig) levels and antibody type (Ig type G or Ig type A)
Antibodies are proteins that are overproduced by myeloma cells. This test determines levels of IgG or IgA antibodies in the blood. Higher antibody levels suggest the presence of multiple myeloma.
Serum protein electrophoresis
This test can detect the presence and level of various proteins in the blood, including the protein made by myeloma cells—Monoclonal or M protein. Higher protein levels indicate more extensive disease, and can aid in classification and staging of the disease.
Immunofixation electrophoresis (IFE; also called immunoelectrophoresis)
This test can identify the type of abnormal antibody proteins present in the blood (usually type A or G), and aids in classification of the disease.
Freelite™ serum free light chain (FLC) assay
This test measures antibody light chains made by myeloma cells. Light chains (also called Bence Jones proteins) are classified as kappa or lambda. Abnormal levels and/or ratio of FLCs suggest the presence of multiple myeloma or a related disease.
This set of tests is used to assess kidney function. It includes both chemical analyses (looking for blood, glucose, protein, and other substances that might be present in the urine and measuring how much is present), and sometimes visual examination of the urine through a microscope. Abnormal findings may suggest kidney damage due to multiple myeloma.
Urine protein level (performed on a 24-hour specimen of urine)
This test measures the presence and level of protein found in the urine. Detection of protein may indicate multiple myeloma. This test does not tell you what kind of proteins are present.
Urine protein electrophoresis
This test determines the presence and levels of specific proteins in the urine, including M protein (or monoclonal protein) and FLC (also called Bence Jones protein). The presence of M protein or FLC suggests the presence of multiple myeloma.
These tests include the bone [skeletal] survey, X-ray, magnetic resonance imaging [MRI], computerized tomography [CT], and positron emission tomography [PET]. These tests assess changes in the bone structure and can both diagnose multiple myeloma and determine the number and size of multiple myeloma tumors in the bone.
Bone marrow biopsy/aspiration
In a bone marrow biopsy, your doctor will remove a small piece of bone that contains marrow. For a bone marrow aspiration, your doctor will remove a small amount of liquid bone marrow which contains marrow cells. Both of these samples are usually taken from the pelvic, or hip, bone using a large needle, This test can determine the number and percentage of normal plasma cells and cancerous plasma cells (multiple myeloma cells) in the bone marrow. Presence of myeloma cells in the bone marrow confirms the diagnosis of multiple myeloma. A higher percentage of myeloma cells indicates more extensive disease.
Cytogenetic analysis (also known as karyotyping and Fluorescence In Situ Hybridization [FISH])
These tests are done on multiple myeloma cells that are removed from the bone marrow.
They measure the number and assess the appearance of chromosomes in the multiple myeloma cells, and can detect some types of DNA alterations. Certain DNA alterations may help indicate how aggressive the disease is.