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.
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.
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.
Summary The yield of genetic testing in patients with hereditary neuropathy (HN) has not consistently included the mitochondrial genome (MG). To address this, we performed a retrospective review of 661 reports from individuals suspected of having HN who had multi-gene panel testing (MGPT) at Blueprint Genetics. One of every four…
Read moreIn this webinar, Alicia Scocchia, MS, CGC will review the use of genetic testing in individuals with cystic kidney disease and pose considerations for genetic test selection, based on published literature and the experience of Blueprint Genetics.
Read moreIn this talk, Dr Wells will demonstrate how high quality whole-exome sequencing, analysis and interpretation lead the way in unlocking answers in the most challenging cases. Dr Raquel Pérez will review the capabilities of an NGS-based mtDNA assay performed in parallel with nuclear DNA analysis and outline key considerations for mitochondrial genome testing and reporting.
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