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Neutropenia in the age of genetic testing: Advances and challenges.

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.

SUBMITTER: Furutani E

PROVIDER: S-EPMC6380907 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Neutropenia in the age of genetic testing: Advances and challenges.

Furutani Elissa E Newburger Peter E PE Shimamura Akiko A

American journal of hematology 20190108 3

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 tes ...[more]

PMID: 30536760

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