Table 3. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Hematologic/ Oncologic	CBC w/differential	Incl peripheral smear for detection of hematologic neoplasms
Consider platelet aggregation studies.	If available & platelet count allows
Consider bone marrow biopsy & aspirate.	Particularly if cytopenias are present on CBC
Consider referral to hematologist/oncologist.	Consider referral to a center w/expertise in predisposition to malignancy, as a multidisciplinary team may help refine optimal management.
Genetic counseling	Consultation w/clinical geneticist &/or genetic counselor	To incl genetic counseling, ideally in a center w/experience in predisposition to hematologic malignancy

From: ETV6 Thrombocytopenia and Predisposition to Leukemia

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