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Topics in Practice Management |

Diagnosis of Adult Hereditary Pulmonary Disease and the Role of Genetic Testing

Parina Shah, MD; Katherine Nathanson, MD; Anne Marie Holmes, BSN, CPC; Denis Hadjiliadis, MD
Author and Funding Information

From the Department of Internal Medicine (Dr Shah, Ms Holmes), the Division of Medical Genetics (Dr Nathanson), and the Division of Pulmonary, Allergy, and Critical Care (Dr Hadjiliadis), University of Pennsylvania, Philadelphia, PA.

Correspondence to: Parina Shah, MD, Hospital of the University of Pennsylvania, 3400 Spruce St, 100 Centrex, Philadelphia, PA 19104; e-mail: Parina.Shah@uphs.upenn.edu


For editorial comment see page 748

Reproduction of this article is prohibited without written permission from the American College of Chest Physicians (www.chestpubs.org/site/misc/reprints.xhtml).


© 2010 American College of Chest Physicians


Chest. 2010;137(4):976-982. doi:10.1378/chest.09-0281
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Genetic testing is becoming a common component of medical practice and is used to determine definitive diagnoses for several adult pulmonary diseases. It is important for pulmonologists to know when to use genetic tests for diagnosis and medical management. This article describes diagnosis of rare hereditary pulmonary disease in adults and the role of genetic testing. A summary on coding and reimbursement is included.


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