The Blueprint Genetics Severe Combined Immunodeficiency Panel is a 68 gene test for genetic diagnostics of patients with clinical suspicion of combined immunodeficiencies.Read more
ImmunologyWe offer comprehensive genetic diagnostics for a broad range of inherited and congenital immunological defects, covering genes associated with known primary immunodeficiencies (PID).
Genetic testing for immunology
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.
A selection of our immunology panels
The Blueprint Genetics Autoinflammatory Syndrome Panel is a 25 gene test for genetic diagnostics of patients with clinical suspicion of chronic infantile neurologic cutaneous articular syndrome (CINCA), cryopyrin-associated periodic syndromes (CAPS), familial Mediterranean fever (FMF), familial cold autoinflammatory syndrome 2 (FCAS2), hyperimmunoglobulinemia D with periodic fever syndrome (HIDS), Muckle-Wells syndrome…Read more
The Blueprint Genetics Primary Immunodeficiency Panel is a 230 gene test for genetic diagnostics of patients with clinical suspicion of autoinflammatory disorders, combined immunodeficiencies, complement deficiencies, congenital defects of phagocytes, defects in innate immunity, diseases of immune dysregulation or immunodeficiencies with antibody defects.Read more
Find the right test for your patient
Published on July 21, 2017
Blueprint Genetics is committed to provide the highest quality genetic testing for our customers. Since quality is something that can be proven, we are proud to transparently share our full set of quality metrics with you. To be able to show the different aspects of quality in genetic testing, we…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.
Looking for transparency Dr. Tero-Pekka Alastalo discusses how sequencing technologies and the chosen strategy in a lab can define quality and yield, highlighting bioinformatics and interpretation as being the biggest challenges in the current market. He also discusses what can make a lab transparent in its services and what is…See more