Pulmonolgy
GENETIC TESTING FOR PULMONOLOGY
Inherited pulmonary diseases are a group of lung disorders with variable clinical presentation and frequently have significant phenotypic overlap. The diseases can affect the airways (e.g. cystic fibrosis and primary ciliary dyskinesia), parenchyma (pulmonary fibrosis, Birt Hogg Dube syndrome, and tuberous sclerosis), and vasculature of the lung. Rare lung diseases generally affect individuals from birth through about age 60. They are in many cases serious, chronic, and can be devastating. Once properly diagnosed, they often require expensive, long-term treatments. Genetic diagnostics by NGS offers a rapid approach to correct clinical diagnosis and early and personalized intervention.
What genetic diagnostics can offer patients with pulmonological diseases
What genetic diagnostics can offer patients with pulmonological diseases Genetic diagnostics are often the most efficient way to subtype hereditary pulmonary diseases, and they provide the necessary information to make confident individualized treatment and management decisions. Specifically, variation in the CFTR gene that causes cystic fibrosis, is targeted in this category. In addition to cystic fibrosis, determining the exact underlying genetic defect in any hereditary pulmonary disease heavily affects genetic counseling and risk assessment. Identifying at-risk family members makes it possible to begin preventive treatments and/or make lifestyle recommendations. It also justifies routine follow-ups by health care professionals. Genetic diagnostics can help in family planning.
