Many genetic lung diseases have associated complications involving other organs that, if detected early, can be treated effectively.
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.

Here are a few of the most common diseases Tested in Pulmonary Panel:

• Cystic Fibrosis
• Central Hypoventilation Syndrome
• Pulmonary arterial hypertension
• Ret gene mutation can cause lung cancer
• Chronic Obstructive Pulmonary disease
• Bronchiectasis
• Neuroendocrine Lung tumors
• Tuberous Sclerosis
• Lymphangioleiomyomatosis Disease
• Pulmonary Surfactant Dysfunction
• Interstitial Lung Disease
• Congenital Hypoventilation Syndrome
• Primary Ciliary
• Dyskinesia Ciliary Dyskinesia
• Kartagener Syndrome
• Emphysema
• Pneumothorax (Spontaneous Pneumothorax)
• Pulmonary Fibrosis
• Asthma
• Respiratory Distress Syndrome
• Pulmonary Hypertension
• Serpinal Mutations can lead to AAT deficiency which is associated with a substantially increased risk of lung disease