Myelodysplastic Syndrome Tests

Myelodysplastic syndromes are a group of blood disorders with overlapping features — identifying their different forms is challenging — and since every patient’s disease looks different, getting an accurate diagnosis is important. For these reasons treatment at City of Hope begins with leading-edge diagnostics, performed by world-renowned hematopathologists who are well-versed about the entire spectrum of this disease.

Diagnosing myelodysplastic syndromes

Tests used for the most accurate diagnosis of MDS include:

• Complete blood count: One of the first steps when diagnosing MDS is a complete blood count, to determine where there are potential shortages among the blood cells generated in bone marrow. Blood samples are saved to later be examined under a microscope.
• Blood chemistry studies: These blood tests look for too much or too little of specific substances (such as vitamin B12 and folate) that may indicate MDS.
• Bone marrow aspiration, biopsy: Samples of the bone marrow (and bone) are extracted, using a hollow needle, from the back part of the hip bone. These tests are used first to diagnose MDS, but may later be used to test how well a particular therapy is working. Blood and/or bone taken during this test are later examined by a pathologist.
• Immunocytochemistry: Antibodies are added to blood and bone marrow samples so that they change color. These changes are viewable under special microscopes and help to decipher one type of MDS from another.
• Cytogenetics: A test that looks at the insides of cells to determine of a defect inside them is driving the MDS
• Molecular genetic studies: Tests, including an advanced technology called FISH (fluorescent in situ hybridization) used to find genetic defects that may be driving MDS. These tests are often more sensitive than traditional cytogenetic testing.

Not all of these tests are required to make an accurate diagnosis of MDS.