In this educational webinar, Ben Shaberman, Vice President, Science Communications at the Foundation Fighting Blindness, will review IRDs as well as emerging therapies in this field. He will be accompanied by Michelle Glaze, Director of Professional Outreach and IRD Patients at the Foundation Fighting Blindness. Michelle will share her personal journey towards her genetic diagnosis and the importance of patient registries from the patient’s and therapy developer’s point of view.Read more
Genetic testing for immunology
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.
Fast and reliable diagnosis of primary immunodeficiencies (PIDs) can be life-saving. Certain defects necessitate prompt stem cell transplantation to prevent organ damage caused by opportunistic infections and to avoid an inevitable fatal outcome associated with the natural course of the disease. Some PIDs require personalized follow-up and supportive care to improve the outcome of affected patients.
All defects causing bone marrow failure lead to severe immunosuppression and may necessitate stem cell transplantation as the preferred treatment. An increased risk of cancers is characteristic in almost all immunodeficiencies. Some immunodeficiencies, such as defects in the complement pathway, may also present later in life with characteristics related to an abnormal outcome of common infections.
What genetic diagnostics can offer patients with hereditary immunodeficiencies
Accurate genetic diagnosis of the immunodeficiency, combined with a detailed disease phenotype, is crucial in characterizing these rare diseases. It also improves treatment and follow-up strategies for affected patients and their family members. Identifying family members at risk makes it possible to begin preventive treatments and/or make lifestyle recommendations. It also justifies routine follow-ups by healthcare professionals. Genetic diagnosis can also 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
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
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