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Myelodysplastic Syndrome

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The goals with testing are to diagnose myelodysplastic syndrome (MDS), distinguish it from other conditions that may cause similar symptoms, classify the MDS, evaluate its likely prognosis, monitor it, and guide treatment.

Primary tests:

  • Complete blood count (CBC) and differential – these are the most frequently ordered tests to help diagnose and monitor MDS. They count the number and proportion of the different types of blood cells and evaluate their size, shape, and maturity. With MDS, they typically reveal low numbers of one or more of the blood cells.
  • Peripheral blood smear – this test evaluates the cells present in the blood. A drop of blood is spread thinly onto a glass slide, then treated with a special stain and examined under a microscope by a trained laboratorian. This test is ordered to help evaluate the immature blast and precursor cells or abnormal-looking (dysplastic) cells that may be present with MDS.
  • Bone marrow aspiration/biopsy – this procedure is used to help diagnose MDS and is sometimes repeated to monitor its progress. A small amount of bone marrow and bone are collected and examined under the microscope by a specialist (pathologist, oncologist, hematologist) to evaluate the number, size, and appearance of various precursor cells present in the marrow.
  • Chromosome analysis (karyotyping) and/or fluorescence in situ hybridization (FISH) – these tests are performed to detect chromosomal abnormalities and to help diagnose and classify MDS, guide treatment, and evaluate prognosis. A more focused version of it may be performed to evaluate those chromosomes and areas that are known to be associated with MDS.

Sometimes ordered:

  • Flow cytometry – although not needed for MDS diagnosis, the test may be used to help diagnose and classify MDS, especially if the bone marrow blasts appear increased.
  • Immunocytochemistry – a test method that uses antibodies and causes color changes in cells that can be seen under a microscope. This test is not commonly performed for MDS, but it may help distinguish between different types of MDS, leukemia, and other diseases.
  • DNA mutation analysis – If indicated, the tests may be performed to identify certain gene mutations to help classify MDS or predict treatment response or outcome.

Other testing as needed:

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