The Blueprint Genetics Cystic Fibrosis Panel is a one gene test for genetic diagnostics of patients with clinical suspicion of cystic fibrosis.Read more
PulmonologyWe offer comprehensive genetic diagnostics for hereditary pulmonary diseases, including nonsyndromic presentations, as well as a number of syndromes in which pulmonary symptoms occur with systemic diseases.
Genetic testing for pulmonology
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 is often the most efficient way to subtype hereditary pulmonary diseases, providing 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, genotypespecific 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 in 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, and justify routine follow-ups by health care professionals. Genetic diagnostics can help in family planning.
A selection of our pulmonology panels
The Blueprint Genetics Comprehensive Pulmonology Panel is a 61 gene test for genetic diagnostics of patients with clinical suspicion of inherited pulmonary disease.Read more
The Blueprint Genetics Pulmonary Artery Hypertension (PAH) Panel is an 11-gene test for genetic diagnostics of patients with clinical diagnosis an idiopathic or familial form of pulmonary hypertension. The panel covers also disorders affecting primarily the pulmonary capillaries or pulmonary veins.Read more
Find the right test for your patient
Published on June 1, 2017
We are excited to announce the latest updates to our test menu. We have added some deep intronic and non-coding variants to the tested target regions that have been reported as pathogenic in the literature and are classified as likely pathogenic or pathogenic in ClinVar. These include for example the recurrent…Read more
Published on June 15, 2017
There is a significant completion to drive down the price and TAT of genetic diagnostics. To survive in this competition, laboratories have to either rigorously innovate or then make compromises in quality and performace standards. In an untransparent diagnostic environment, health care professionals have a hard time to evaluate optimal and best testing for their patients.
[WHITE PAPER] Validation of clinical testing – Setting a new standard for clinical testing through fully transparent validation. Comprehensive analytic validation is a critical step in transparent genetic diagnostics. It demonstrates the quality and performance of the pipeline, and is the foundation for setting quality standards for the carried tests. Blueprint Genetics performs analytic…Read more