Early diagnosis to help preserve lung function.

Pulmonary diseases, also known as lung disorders and respiratory diseases, affect the lung and other parts of the respiratory system. Pulmonary diseases may be caused by infection, breathing in tobacco smoke or other forms of air pollution, or genetic variations, which are associated with inherited/genetic pulmonary diseases.

The most common genetic respiratory disease is cystic fibrosis, which affects the airways. Other examples of genetic pulmonary diseases include primary ciliary dyskinesia, tuberous sclerosis, Birt-Hogg-Dube syndrome, among many others.

Benefits of Genetic Testing Include:

  • Many genetic lung diseases have associated complications involving other organs that can be treated effectively, if detected early.
  • A firm diagnosis can direct patients to appropriate experimental therapies or clinical trials.
  • Early diagnosis is important for preserving lung function. Once a diagnosis of any type of rare lung disease is confirmed, patients will be closely monitored for the development of complications including lung infection, pneumothorax (collapsed lung), or end-stage lung disease. Earlier diagnosis, leading to earlier
    initiation of preventative therapies can improve long-term lung health.
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