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Something About
Pulmonary Panel
As advancements in pulmonary genetic research progress, we are committed to supporting more families and expanding our knowledge of rare lung diseases.
Patients who meet any of the following criteria are suitable 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.
About
Comprehensive Pulmonology
Inherited pulmonary diseases encompass a range of lung disorders with diverse clinical presentations and often significant phenotypic overlap. These diseases may impact various parts of the lungs, including the airways (such as cystic fibrosis and primary ciliary dyskinesia), parenchyma (such as pulmonary fibrosis, Birt-Hogg-Dubé syndrome, and tuberous sclerosis), and the lung vasculature. Rare lung diseases typically affect individuals from birth to around age 60 and are often severe, chronic, and potentially devastating. Proper diagnosis is crucial, as these conditions frequently require costly, long-term treatments. Cystic fibrosis is the most common genetic respiratory disease, and misdiagnosis can lead to inappropriate care and increased risks of complications. Genetic diagnostics through next-generation sequencing (NGS) provides a rapid method for accurate diagnosis, enabling early and personalized intervention.
About
Common Symptoms of Lung Disease
- Cough
- Dyspnea (difficulty breathing)
- Orthopnea (shortness of breath when lying down)
- Shortness of Breath
- Stridor (a high-pitched wheezing sound)
- Wheezing
- Periodic Breathing
- Hyperventilation (rapid or deep breathing)
- Tachypnea (abnormally rapid breathing)
- Pleurisy
- Cyanosis
- Abnormal Blood Gas Levels
- Solitary Pulmonary Nodule
- Nonspecific Abnormal Findings in Lung Field
- Abnormal Pulmonary Function Test Results
- Hypoxemia (low oxygen levels in the blood)
- Mucus Production (excessive mucus in the airways)
- Asphyxia (inability to breathe, leading to oxygen deprivation)
Benefits of
Genetic testing?
A firm diagnosis is essential in directing patients to appropriate experimental therapies or clinical trials. Many genetic lung diseases have complications that involve other organs, and detecting these issues early can lead to effective treatment. Early diagnosis is particularly important for preserving lung function and ensuring patients receive timely care.
Once any rare lung disease is diagnosed, patients need to be closely monitored for the development of complications, such as lung infections, pneumothorax (collapsed lung), or end-stage lung disease. An earlier diagnosis allows for the prompt initiation of preventative therapies, which can significantly improve long-term lung health and quality of life.
Testing family members for the same genetic mutation is also crucial, even if they do not show any symptoms. Identifying a genetic mutation in a relative allows for early intervention, potentially preventing the disease from advancing to a more severe stage and offering a better chance for effective treatment.
Diseases Tested in this Panel
- Cystic Fibrosis
- Central Hypoventilation Syndrome
- Pulmonary arterial hypertension
- Ret gene mutation can cause lung cancer
- Chronic Obstructive Pulmonary disease
- Bronchiectasis
- Neuroendocrine Lung tumors
- Asthma
- Tuberous Sclerosis
- Lymphangioleio-myomatosis Disease
- Pulmonary Surfactant Dysfunction
- Interstitial Lung Disease
- Congenital Hypoventitalion Syndrome
- Primary Ciliary
- Dyskinesia Ciliary Dyskinesia
- Pulmonary Hypertension
- Kartagener Syndrome
- Emphysema
- Pneumothorax (Spontaneous Pneumothorax)
- Pulmonary Fibrosis
- Respiratory Distress Syndrome
- Serpina1 Mutations can lead to AAT
- deficiency which is associated with
- substantially increased risk of lung disease
Labs Advantages:
- Interfacing available via HL7 or API Reports
- Portal available for real time results
- Turnaround times are consistently fast
- Quality data is our #1 priority
- Patient first culture
- Partner to physician
- Access to experts in the lab at all times
- Compliant & Accredited Laboratory
