Pulmonary Genetic Research
As discoveries in pulmonary genetic research continue to grow, we look forward to helping more families, while broadening the understanding of rare lung diseases. 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
Common Symptoms of Lung Disease
- Shortness of Breath
- Periodic Breathing
- Abnormal blood-gas level
- Solitary pulmonary nodule
- Other nonspecific abnormal finding of lung field
- Abnormal results of pulmonary function studies
Diseases Tested in Pulmonary Panel
- Cystic Fibrosis
- Central Hypoventilation Syndrome
- Pulmonary arterial hypertension
- Ret gene mutation can cause lung cancer
- Chronic Obstructive Pulmonary disease
- Neuroendocrine Lung tumors
- Tuberous Sclerosis
- Lymphangioleiomyomatosis Disease
- Pulmonary Surfactant Dysfunction
- Interstitial Lung Disease
- Congenital Hypoventilation Syndrome
- Primary Ciliary
- Dyskinesia Ciliary Dyskinesia
- Kartagener Syndrome
- Pneumothorax (Spontaneous Pneumothorax)
- Pulmonary Fibrosis
- Respiratory Distress Syndrome
- Pulmonary Hypertension
- Serpinal Mutations can lead to AAT deficiency which is associated with a substantially increased risk of lung disease
What are the benefits of genetic testing?
A firm diagnosis can direct patients to appropriate experimental therapies or clinical trials.
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.
Having your relatives tested is important, even if they don’t show any signs of the disease. By discovering the same genetic mutation in a family member, we can offer treatment before their disease becomes more severe.
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