What Is Pulmonary Testing?

Pulmonary Testing is a comprehensive genetic diagnostic solution designed to evaluate inherited lung diseases using Next-Generation Sequencing (NGS) technology. Inherited pulmonary diseases represent a diverse group of lung disorders with variable clinical presentations and significant phenotypic overlap. These conditions may affect the airways, such as cystic fibrosis and primary ciliary dyskinesia; the lung parenchyma, including pulmonary fibrosis, Birt-Hogg-Dubé syndrome, and tuberous sclerosis; or the pulmonary vasculature.

Rare lung diseases can impact individuals from birth through approximately age 60 and are often serious, chronic, and potentially devastating. Once accurately diagnosed, they frequently require long-term and specialized treatment. Genetic diagnostics using NGS provide a rapid and precise method for establishing the correct clinical diagnosis, supporting early and personalized intervention strategies.

How Will I Benefit?

Pulmonary genetic testing is often the most efficient way to accurately subtype hereditary pulmonary diseases, providing critical information for individualized treatment and management decisions. For example, variations in the CFTR gene associated with cystic fibrosis are specifically evaluated within this testing category.

Beyond cystic fibrosis, identifying the exact underlying genetic cause of hereditary pulmonary diseases significantly influences genetic counseling and risk assessment. Detecting at-risk family members allows for earlier preventive measures, recommended lifestyle modifications, and appropriate clinical monitoring. It also supports informed family planning decisions. By clarifying the genetic basis of disease, this testing helps guide confident, personalized medical care and long-term management.

What We Offer

We offer a Comprehensive Pulmonary Panel consisting of 62 carefully selected genes, including the assessment of non-coding variants. The genes included in the panel have been chosen based on scientific literature, mutation databases, and clinical experience to ensure a thorough evaluation.

Our clinical reports are designed to be comprehensive and clinically meaningful. Accurate interpretation requires a strong foundation in clinical genetics and genetic principles. Our team of PhD molecular geneticists, medical geneticists, and clinical consultants collaboratively evaluate identified variants within the context of the phenotypic information provided.

The goal of our analysis is to deliver clear, clinically relevant statements that are understandable and actionable for healthcare professionals, regardless of their formal training in genetics, ensuring informed decision-making and optimized patient care.