Pulmonology

Genetic testing for pulmonology

Our panels include over 3,900 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.

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Latest news and resources

Webinars

Inborn Errors of Immunity: The Growing Role of Genetics

Nov 19, 2019

Recognizing the early symptoms of this patient population and identifying the underlying molecular cause can be challenging but can have a direct impact on long term outcomes. In this webinar, Géraldine Gosse from the Montreal Clinical Research Institute will review the vast spectrum of inborn errors of immunity and how a multidisciplinary team is advantageous to diagnosis and treatment. 

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Improving quality: Blueprint Genetics updates panels and prepares for the launch of mitochondrial DNA testing later this year

Oct 18, 2019

Blueprint Genetics is adding over 400 genes to 138 panels and introducing an improved clinical-grade Next Generation Sequencing assay for panels, single genes and variant specific testing. This update includes a number of recently discovered, clinically relevant deep intronic and regulatory variants and will facilitate the introduction of mitochondrial…

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Webinars

Introducing an open access genetic testing program for patients with inherited retinal degeneration

Oct 15, 2019

In this webinar, we will provide an overview of how the program works, describe the genetic counseling services provided to patients, outline the data privacy and data sharing policies, as well as highlight the benefits of enrolling in the MRT Patient registry. We will also provide an update on the new and updated Retinal Dystrophy Panel (‘My Retina Tracker’ Panel) offered through this program.

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