Neutropenia in the age of genetic testing: Advances and challenges
Department of Pediatrics, Division of Hematology Oncology
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Diagnosis | Hematology | Hemic and Lymphatic Diseases | Medical Genetics
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.
DOI of Published Version
Am J Hematol. 2019 Mar;94(3):384-393. doi: 10.1002/ajh.25374. Epub 2019 Jan 8. Link to article on publisher's site
American journal of hematology
Furutani, Elissa; Newburger, Peter E.; and Shimamura, Akiko, "Neutropenia in the age of genetic testing: Advances and challenges" (2019). Pediatric Publications and Presentations. 263.