As discoveries in pulmonary genetic research continue to grow, we look forward to helping more families, while broadening the understanding of rare lung diseases.
About Pulmonology Disease
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. Once properly diagnosed, they often require expensive, long-term treatments. The most common genetic respiratory disease is cystic fibrosis. Misdiagnosis can lead to inappropriate care and an increased risk of complications.
Patients who meet one or more of the parameters below are viable candidates for a gene sequencing test:
- Patients who are suspected of having a rare lung disease
- Patients with symptoms of lung disease at an unusually young age
- Family members of patients who have been diagnosed with a rare lung disease
- Patients who have an unusual mixture of symptoms often associated with lung disease, but don’t fit one specific pattern of disease
Schedule an Appointment
Appointments are strongly encouraged and will receive priority. Walk-ins may be accommodated during the next available appointment opening.