How is MDS diagnosed?

1. Initial Screening: Blood Test The journey towards diagnosing MDS usually starts with a blood test, specifically a Complete Blood Count (CBC). This test assesses the number of red and white blood cells, and platelets present in the blood. If the count is low for any of these cells, it could suggest MDS may be the culprit.

2. Confirmatory Test: Bone Marrow Examination If CBC results suggest MDS, a bone marrow examination is generally the next step. This involves two procedures: a bone marrow aspiration and a biopsy. In these procedures, a needle is used to extract a small amount of bone marrow and a small piece of bone and marrow, respectively, typically from the hip bone. These samples are then examined under a microscope for abnormal cells, which can confirm MDS.

3. Additional Analysis: Cytogenetic Analysis To further understand the disease, cytogenetic analysis is performed on the cells obtained from the bone marrow. This test involves studying the chromosomes within these cells. Any noticeable changes or abnormalities can suggest MDS and provide vital prognostic information.

4. Differential Diagnosis: Flow Cytometry Flow cytometry is another test that may be done. It uses lasers to examine cell's size, shape, and structure, which can help differentiate MDS from other diseases with similar symptoms or microscopic appearance.
5. Advanced Testing: Molecular Testing Molecular testing, a newer diagnostic tool, looks for changes or mutations in certain genes. The presence of such mutations can help determine the patient's prognosis and inform the best treatment options.

6. Diagnosis and Management by Specialists: Given the complexity of MDS, its diagnosis and management are typically done by specialists such as hematologists or oncologists. They guide patients through the diagnostic process, explain each test and its results, and discuss the best treatment options based on those results.
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