Genetic tests for many rare lung diseases are now available and becoming part of clinical practice. The phenotypes of pulmonary disorders amenable to genetic testing will be briefly reviewed, along with the types of testing available, and the benefits and pitfalls of genetic testing will be discussed. A framework for interpretation of test results based upon review of the literature and current recommendations will be presented, along with informative cases selected to emphasize the potential utility as well as the limitations and pitfalls of genetic testing. Time will be provided for questions, including review of selected reports.