How We Diagnose Myelodysplastic Syndromes (MDS)

Diagnosis and treatment for MDS are led by our experienced team in the Adult Leukemia Program at Dana-Farber Brigham Cancer Center.

The oncologists who lead your care team work closely with hematopathologists (pathologists who specialize in blood disorders) to diagnose your condition and guide your treatment.

Tests to Diagnose MDS

A series of tests and procedures may be used to diagnose and understand your MDS. We will review data from prior tests you have had and integrate that into our testing to learn more about your disease and possible treatment options. The diagnostic process may involve:

Physical exam and medical history

Complete blood count (CBC) with differential: This is a procedure in which a sample of blood is drawn and checked for the following:

  • The number of red blood cells and platelets
  • The number and type of white blood cells
  • The amount of hemoglobin (the protein that carries oxygen) in the red blood cells
  • The portion of the blood sample made up of red blood cells

Bone marrow biopsy: If needed, this procedure is done in the office or the hospital room. A clinician uses local anesthetic to numb the posterior iliac crest (back of the hip). A needle is used to obtain a liquid aspirate sample and a small core biopsy sample of the bone marrow. The samples obtained are analyzed by specialized hematopathologists to confirm the diagnosis and conduct various tests to characterize your disease.

Next-generation sequencing: Our patients have access to our Rapid Heme Panel -- a next-generation sequencing test to identify mutations or DNA alterations in 95 genes that are frequently mutated in blood cancers. This test was developed at Dana-Farber Brigham Cancer Center and provides results in a matter of days, which helps inform treatment decisions.

Referral to genetics: All newly-diagnosed MDS patients are offered a referral to our genetics program to be evaluated for any inherited mutations that may have contributed to the development of MDS. If inherited mutations are identified, testing of siblings and children is offered.

These tests provide valuable information about your disease and how likely it is to progress to AML. We use this information to form your treatment plan and identify potential clinical trials.

Second Opinions

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Consultations and Second Opinions

Because MDS is relatively uncommon, we believe there is great value in consulting with our team of experienced clinicians. We routinely evaluate specimens sent to us from outside centers. Reasons to consider a consultation or second opinion include:

  • If you have received a diagnosis elsewhere and want to be treated at Dana-Farber Brigham Cancer Center.
  • To learn if you're eligible for a clinical trial
  • To confirm your diagnosis
  • To determine the optimal therapy and timing of treatment
  • To determine if you should consider allogeneic stem cell transplant
  • To learn more about your cancer from specialists who are world leaders in this disease, and who have treated hundreds of other patients like you


Phone: 617-632-6028 or 617-632-5138
Online: Complete the Appointment Request Form

Can't travel to Boston? Our Online Second Opinion service lets patients from all over the world receive expert second opinions from Dana-Farber oncologists.

For Referring Physicians

Because you, the referring physician, are an integral part of your patient's care team, we are committed to collaborating with you to provide the best care for your patient.

If you are a physician and have a patient with diagnosed or suspected MDS, we look forward to working with you. Learn how to refer a patient.