Your doctor will talk to you about your symptoms, examine you and arrange tests to confirm whether you have a myelodysplastic neoplasm (MDS). You may be referred to a haematologist – a doctor who specialises in blood disorders.
Possible tests include:
- Full blood count: This is done to count the different blood cells (red cells, white cells, and platelets) in your blood and to assess whether any are unusually sized or shaped. In MDS, the number of the various blood cells may be reduced, the blood cells may looks abnormal or there may be a combination of both.
- Bone marrow biopsy: This is a test in which bone marrow (the liquid portion inside the bone) and a small core of the bone is removed using a thin needle, and examined under a microscope. It’s usually taken from the back of your hip bone.
There are different types of myelodysplastic neoplasms (MDS) depending on the type of blood cell(s) involved and whether any genetic changes have occurred. One, or more than one, type of blood cell may be affected, and some people may have a mutation (change) in their DNA causing changes in their blood cell chromosomes.
Once a diagnosis of MDS is confirmed from a bone marrow biopsy, it's sub-classified into 1 of several disease groups based on:
- the number of cell types that are affected
- genetic or chromosome changes, and
- the presence of absence of various mutations.
Based on these results, the condition is also categorised as low or high-risk disease.
Testing of your blood and bone marrow can help predict the likely course of your MDS. Some types of MDS stay mild (or indolent) for years, but others are more serious.