Pulmonology Genetic Testing

Pulmonology genetic testing is a specialized diagnostic tool used to identify inherited genetic mutations that affect lung health and respiratory function. It helps detect conditions such as cystic fibrosis, primary ciliary dyskinesia, alpha-1 antitrypsin deficiency, and surfactant dysfunction disorders. This type of testing analyzes DNA from a blood or saliva sample to pinpoint specific gene alterations that may cause or contribute to chronic or progressive pulmonary diseases. Early identification through genetic testing enables more accurate diagnosis, personalized treatment plans, and informed family planning decisions. It is especially useful for patients with unexplained respiratory symptoms or a family history of lung disease.

Why Choose This Pulmonology Genetic Testing?

Choosing pulmonology genetic testing offers a proactive approach to understanding and managing inherited lung conditions. It enables early and accurate diagnosis, especially in cases where symptoms are nonspecific or overlap with other respiratory disorders. By identifying the exact genetic cause, clinicians can tailor treatment plans, monitor disease progression more effectively, and avoid unnecessary interventions. Additionally, it provides critical insights for family members who may be at risk, supporting informed decisions about genetic counseling and preventive care. For children and adults with recurrent or unexplained respiratory issues, this testing serves as a key tool for unlocking answers and improving long-term health outcomes.

When Is It Used?

There is a family history of genetic lung diseases like cystic fibrosis or alpha-1 antitrypsin deficiency.
A child or adult presents with chronic, unexplained respiratory symptoms such as persistent cough, wheezing, or shortness of breath.
Conventional diagnostic tests are inconclusive, and a genetic cause is suspected.
Newborn screening reveals potential markers for inherited pulmonary disorders.
A patient has frequent respiratory infections or poor response to standard treatments.
Genetic counseling is needed for family planning or carrier status assessment.

Who Should Consider Pulmonology Genetic Testing?

Individuals with a personal or family history of chronic or unexplained respiratory issues should consider pulmonology genetic testing. It is especially relevant for those who exhibit early-onset or treatment-resistant lung symptoms, as well as families affected by known genetic pulmonary disorders. This testing can help clarify diagnoses, guide targeted treatments, and inform relatives of potential risks or carrier status.

You should consider this test if:

Individuals with a family history of genetic lung diseases like cystic fibrosis or primary ciliary dyskinesia.
Children with persistent respiratory problems not explained by common conditions.
Adults with chronic obstructive pulmonary symptoms without clear environmental or lifestyle causes.
Patients with poor or no response to standard respiratory treatments.
Parents planning to have children and want to assess genetic risk for inherited lung disorders.
Individuals identified as carriers through newborn or prenatal screening.

How We Work

How is the Test Performed?

Our Services

Just a few of the many health issues we screen for

Cystic Fibrosis

Affects mucus production, leading to thick secretions that block airways and cause chronic lung infections and breathing difficulties.

Interstitial Lung Disease

Group of genetic lung conditions causing scarring and inflammation, leading to difficulty breathing and reduced oxygen transfer.

Primary Ciliary Dyskinesia

Causes abnormal cilia function in airways, leading to recurrent respiratory infections, sinusitis, and impaired mucus clearance.

Surfactant Protein B Deficiency

Rare disorder affecting surfactant production in lungs, resulting in neonatal respiratory distress and fatal breathing problems.

Birt-Hogg-Dubé Syndrome

Rare condition causing lung cysts, spontaneous pneumothorax, and increased risk of kidney tumors.

Tuberous Sclerosis Complex

Causes benign tumors in organs, including lungs, leading to a condition called lymphangioleiomyomatosis in some patients.

Who we Are

Why Choose Us?

State-of-the-Art Digital Lab Experience

Our fully integrated E-Lab platform offers online test ordering, real-time tracking, and secure digital reporting bringing convenience and control to both physicians and patients across the country.

Advanced Diagnostic Technology

From routine blood tests to complex genetic panels, we leverage cutting-edge platforms like NGS, PCR, and AI-powered analytics for maximum accuracy and clinical relevance.

Fast Turnaround, Local Support

With lab facilities based in Florida, we ensure faster processing times and direct access to our expert team. You get timely results backed by responsive, local customer support.

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Infectious Disease