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 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

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.