These tests focus on measuring the level of blood cells and the amount of abnormal protein (paraprotein) and other substances in blood and/or urine.

A complete blood count measures the amount of the various types of cells in the blood. Red blood cells are responsible for carrying oxygen around the body; a low level relative to the normal range indicates anaemia, which can make you feel tired and lacking in energy. White blood cells are responsible for fighting infection, so a relatively low level means you may be at increased risk of infection. A low level of blood platelets (the third main type) increases the risk of bruising or bleeding.

As well as measuring the blood cells, diagnostic tests will also measure the concentration of protein, waste products and calcium in the blood. The amount of albumin, the main protein in the blood, is lower than normal in people with myeloma, and the amount of beta-2 microglobulin (ß2M) is higher; this is a key indicator of myeloma. The presence of paraprotein, which is not normally present, is indicative of myeloma and can be measured in the blood or urine.

Calcium levels in the blood are higher than normal in people with active myeloma, as calcium is released during bone breakdown. Urea and creatinine, which are waste products normally removed from the blood by the kidneys, may reach higher levels in the blood if the kidneys are not properly functioning.

Further information about paraprotein can be gained by measurement of the relative amounts of parts of the paraproteins in the blood – known as the free light chains. Paraproteins can have either kappa (κ) or lambda (λ) light chains. The total amount of light chains is higher than normal in myeloma, and the ratio between the two types is different. This test can also be conducted if myeloma is suspected but paraprotein levels are undetectable. In addition, it is particularly useful for identifying light chain myeloma or non-secretory myeloma.

 

It is important that your doctors have a clear picture of any effects the myeloma may have had on your bones, so part of the diagnostic procedure will be to use one or more imaging techniques in a skeletal survey. This is a series of X-rays of your spine, skull, upper legs and upper arms, and will show any areas affected by myeloma bone disease. Some areas where the bone has been damaged can be identified for repair to hopefully reduce pain.

 

More information can be obtained from other types of imaging techniques. A CT scan (computerised tomography, sometimes called a CAT scan), is a type of imaging technique where a series of X-ray pictures are combined by computer to build up a detailed picture of areas of the body. Sometimes a dye is injected into a vein, during a CT scan, to help the doctor reading the images distinguish various organs.

A PET scan (positron emission tomography) detects plasmacytomas, a tumour-like collection of myeloma cells outside of the bone marrow in soft tissues. During this scan, a small amount of radioactive glucose (sugar) based dye is injected into your vein through a needle. This dye will then concentrate in (and highlight) the areas in the body where cells are using the most energy. This is therefore an indicator of an area where cancerous myeloma cells have collected.

PET scans are usually integrated with CT scans and can be conducted at the same time, giving a more complete picture than either method can alone.

MRI (magnetic resonance imaging) uses radio waves instead of X-rays, and the radio waves passing through the body are converted by computer into cross-sectional pictures.  MRI scans are useful for locating any abnormalities that are not shown up by X-rays.

Bone marrow tests are carried out to determine whether abnormal plasma cells are present in the bone marrow, and in what proportion to normal plasma cells.

Samples are taken from the liquid of the bone marrow (bone marrow aspiration) and the solid part (bone marrow biopsy). Both are usually taken by needle from the hip bone, under local anaesthetic. The samples are examined under the microscope by a pathologist, a doctor who is trained to evaluate cells and tissues. Normal bone marrow contains less than 5% of plasma cells while myeloma patients may have between 10-90% of plasma cells in the bone marrow.

Another type of bone marrow testing used to assist in the diagnosis of myeloma has been recommended in recently updated guidelines from the International Myeloma Working Group of the International Myeloma Foundation. This is called FISH testing (fluorescence in situ hybridisation).

The test is carried out on a small part of the same bone marrow sample taken during the biopsy. FISH testing can identify specific genetic abnormalities in the DNA of plasma cells that were formed when the cells were developing. These genetic changes (mutations) occur spontaneously, and the type of mutation indicates whether the myeloma should be treated as standard risk or high risk.