This panel of genes is intended for patients with a diagnosis or clinical suspicion of inherited pulmonary disorders. This test is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.
Inherited pulmonary diseases are a group of lung disorders with variable clinical presentation and frequently have significant phenotypic overlap. The diseases can affect the airways (e.g. cystic fibrosis and primary ciliary dyskinesia), parenchyma (pulmonary fibrosis, Birt Hogg Dube syndrome and tuberous sclerosis) and vasculature of the lung. Rare lung diseases generally affect individuals from birth through about age 60. They are in many cases serious, chronic, and can be devastating.