Mitochondrial DNA (mtDNA) disorders are recognized as one of the most common causes of inherited metabolic disorders. mtDNA disorders can come with a range of symptoms such as fatigue, exercise intolerance, hearing loss, seizures, strokes, heart failure, diabetes, and kidney failure. There are approximately 120 mitochondrial disorders described affecting 1 in 5000 individuals worldwide.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
Who We Are Blueprint Genetics is a genetic testing company focused on inherited diseases. With a patient-first mindset, we deliver high-quality genetic testing to the global clinical community across 14 medical specialties. Blueprint Genetics is based in Helsinki and Seattle, with a customer base spanning over 70 countries.Read more
In this presentation, Christèle du Souich, MSc, CGC, CCGC, reviews different types of testing platforms and what to consider when choosing a genetic test for your patient. Through case examples, the step-by-step process and the related key challenges and potential solutions will be presented.Read more