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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.

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Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies

System/ConcernEvaluationComment
Hematologic Clinical eval by hematologist incl CBC, differential, reticulocyte count, & peripheral smearBaseline bone marrow biopsy & aspirate may be considered.
Dermatologic Clinical eval for eczema or other skin concerns as needed
Genetic
counseling
By genetics professionals 1To obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of RUNX1-FPDMM to facilitate medical & personal decision making

CBC = complete blood count; MOI = mode of inheritance; RUNX1-FPDMM = RUNX1 familial platelet disorder with associated myeloid malignancies

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse, or hematologist with expertise in these disorders

From: RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies

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