Having a full and accurate diagnosis is important so that we can personalize a precision-medicine treatment plan for you. We use a comprehensive array of standard and specialized tests to help us understand the characteristics and extent of your specific disease.
Diagnostic testing may include:
- Blood work
- Complete blood count (CBC) measures the levels of red cells, white cells, and platelets in your blood. If there are too many myeloma cells in your bone marrow, some of these blood cell levels will be low. We often find that patients have a low red blood cell count, which results in anemia (due to a reduced amount of hemoglobin, the protein that carries oxygen).
- Serum protein electrophoresis (SPEP) measures normal and abnormal proteins in plasma cells. Myeloma cells produce an abnormal protein (also known as a monoclonal immunoglobulin or M protein). If we find this abnormal protein, it might indicate that you have myeloma.
- Serum immunofixation electrophoresis (IFE) identifies the subtype of abnormal protein, or M protein, in your plasma cells.
- Serum quantitative immunoglobulins (Igs) measure the levels of heavy protein chains (including IgA, IgD, IgE, IgG, and IgM) in the abnormal antibodies that are overproduced by myeloma cells. These levels may not always be elevated.
- Serum free light chain assay measures the levels of antibody light chains, classified as kappa or lambda, made by myeloma cells. Abnormal levels suggest that you might have multiple myeloma.
- Chemistry profile measures the levels of certain substances, such as calcium, albumin, lactate dehydrogenase (LDH), blood urea nitrogen (BUN) and creatinine. If you have abnormal levels of creatinine, for instance, we can tell that there might be kidney involvement in your myeloma.
- Twenty-four-hour urine test involves the collection of urine over a 24-hour period to measure the amounts of proteins in the urine. Sometimes kidneys excrete pieces of M protein into the urine. This urine protein, known as Bence Jones protein, is an indicator of myeloma.
- Magnetic resonance imaging (MRI) with diffusion-weighted whole body imaging (DWIBS) is a very sensitive imaging technique using strong magnets, radio waves, and a computer to make a series of detailed images that can identify areas of active myeloma in the bone. These active areas are referred to as bone lesions—they look like holes in the bones and have a Swiss cheese-like appearance. DWIBS is an advanced variation of MRI imaging that uses the diffusion of water molecules to generate contrast in MRI images. This helps provide further information about changes in tissues and lesions throughout your skeleton.
- Skeletal survey is a series of X-rays of bones in the body, usually including the skull, spine, pelvis, ribs, and long bones of the arms and legs. These images can reveal bone damage caused by myeloma.
- Positron emission tomography and computed tomography (PET/CT) scans are advanced nuclear imaging techniques that provide information about both the structure and function of cells and tissues. PET/CT scans help us assess changes in the bone structure as well as the number and size of bone lesions.
- Bone marrow aspiration and biopsies involve removing some of your bone marrow and blood and a small piece of bone by inserting a special biopsy needle into your hip bone. Our pathologists look at the biopsy tissue under a microscope and use stains to identify abnormal cells. We make sure to capture enough tissue to perform advanced testing that helps us identify the unique characteristics of your disease.
Advanced testing and in-depth analyses of bone marrow aspirates and biopsies include:
- Cytogenetics involves studying the chromosomes, the parts of cells that contain genetic information. Some myeloma cells may have too many or too few chromosomes. Others may have abnormal chromosomes such as translocations (part of one chromosome has broken off and become attached to another chromosome) or deletions (part or all of a chromosome is missing). Information from cytogenetic studies helps us design an appropriate treatment plan for you.
- Fluorescence in situ hybridization (FISH) is similar to cytogenetic testing. It uses special dyes that attach only to specific parts of chromosomes, allowing us to identify changes that are too small to be detected with regular cytogenetic testing.
- DNA sequencing uses advanced technology tools such as next-generation sequencing to analyze DNA from your myeloma cells for gene mutations. This information can help us determine the most effective treatment for you.
- Risk profiling includes a variety of tests that we perform on your bone marrow biopsy sample to identify the molecular features of your disease. This information helps us determine how you might respond to specific treatments and which treatments are likely to be the most effective for you.