Genetic testing for immunology

Our panels include over 2600 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.

New! In June 2018, we introduced a new Primary Immunodeficiency (PID) and Primary Ciliary Dyskinesia (PCD) Panel. Read more about the new panel in the News section.

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.

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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


How to solve challenging cases? Part II

Jul 19, 2019

During this webinar, Blueprint Genetics’ Clinical R&D lead, Dr. Johanna Sistonen, will present some of the team’s most challenging cases and describe how their above and beyond efforts led to the identification of the molecular diagnoses for the patients.

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Move announcement: New facility in Seattle – what you need to know

Jul 09, 2019

Blueprint Genetics is excited to announce that beginning July 22nd, we will be moving our sample accessioning, client services and billing services teams to our new expanded facility in Seattle, WA. These new, larger premises will allow us to support our increasing test volumes and provide exceptional customer service to…

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