Discover the clinical relevance of genes that pose sequencing challenges and their unique potential to impact patient outcomes.Read more
Genetic testing for pulmonology
Our panels include over 3,000 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.
Pulmonary diseases have high genetic heterogeneity with significant phenotypic overlap. Given the great number of genes and mutations underlying hereditary pulmonary diseases, NGS and multi-gene panels are often cost-effective primary options for genetic diagnostics for these 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. Screening may enable targeted, genotype specific therapies to improve CFTR function possible, as recommended by a recent publication (PMID: 26403534). In addition to cystic fibrosis, determining the exact underlying genetic defect in any hereditary pulmonary disease heavily affects genetic counseling and risk assessment.
Another example of the utility of genetic testing in hereditary pulmonary diseases is shown through primary ciliary dyskinesia (PCD) cases. PCD is a genetic disorder affecting the function of motile cilia. Clinically, PCD may present with neonatal respiratory distress, chronic coughing, and recurrent sinus or ear infections. In 15–50% of PCD cases, some or even all major visceral organs are reversed from their normal positions – the partial form called situs ambiguous/heterotaxy, and the complete form situs inversus. Genetic diagnosis helps in understanding a patient’s symptomology, and testing will differentiate it from cystic fibrosis, which may mimic the clinical presentation of PCD.
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.
How to order
Ordering a test from us is quick and simple. You can order online using our secure portal, Nucleus, or send us a requisition form by mail.
Latest news and resources
Blueprint Genetics introduces the new Screening Tests family – giving actionable insights for family planning, and future health
The major new portfolio expansion will answer the ever-increasing demand for genetics evaluations for conceiving couples and healthy individuals and provide medically actionable results. While genetic diagnostic tests for affected individuals are a great tool for finding out the cause of…Read more
The Clinical Compass: Guiding Diagnosis and Management of Inborn Errors of Immunity through Genetic Testing
In this webinar, Clinical Genomic Liaison, Torry Howell, MS, CGC will review the use of genetic testing in IEIs and advise on how to maximize quality and patient care when ordering genetic testing.Read more