Initially, blood tests are used to determine whether you have the disorder. If you have a family history of thrombocytopenia and/or leukemia, ITP (immune thrombocytopenic purpura), or other cancers, your family physician will likely refer you to a hematologist. The clinician will ask you about symptoms and your family history and then can extract either blood or bone marrow to have it sequenced to determine whether you have the germline RUNX1 gene mutation. Children who are at risk for RUNX1 FPD/AML should have genetic testing as early as age 1.
Active surveillance is an important part of living with a chronic disease, particularly as it is through the acquisition of subsequent mutations that the disorder progresses to leukemia. It is recommended to have yearly blood panels run by your general practitioner or hematologist to keep abreast of changes, and your clinician may choose to perform a bone marrow test. Be aware of your body, taking note of an increase in spontaneous bruising, lethargy, or loss of appetite, and inform your clinician.
Pregnant women who carry the disorder and who wish to have any genetic testing done may request that RUNX1 FPD/AML be included in the test panel. Pediatricians should be aware of the family history, especially as it relates to prescribing medication and managing bleeding until a formal diagnoses can be made.