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Review
. 2019 Mar;94(3):384-393.
doi: 10.1002/ajh.25374. Epub 2019 Jan 8.

Neutropenia in the age of genetic testing: Advances and challenges

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Review

Neutropenia in the age of genetic testing: Advances and challenges

Elissa Furutani et al. Am J Hematol. 2019 Mar.

Abstract

Identification of genetic causes of neutropenia informs precision medicine approaches to medical management and treatment. Accurate diagnosis of genetic neutropenia disorders informs treatment options, enables risk stratification, cancer surveillance, and attention to associated medical complications. The rapidly expanding genetic testing options for the evaluation of neutropenia have led to exciting advances but also new challenges. This review provides a practical guide to germline genetic testing for neutropenia.

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