Our panels include over 3,900 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.
Many diseases affecting the gastrointestinal organs are inherited or affect people that have a genetic predisposition to disease expression. Recent research has uncovered the genes responsible for many of these conditions. These medical conditions vary in severity and extent from single-organ to multi-systemic disorders. They can decrease quality of life, cause lifelong health problems, or end in premature death.
Genetic diagnostics are the most efficient way to subtype these diseases – for example, classifying pancreatitis type as idiopathic or hereditary assists in differential diagnosis. Another example is to differentiate chronic pancreatitis from syndromic disorders accompanied by pancreatitis, providing the necessary information to make confident individualized treatment and management decisions.
Additionally, knowing the exact genetic cause can help determine any additional risks for a patient. For instance, occurrence of exocrine and endocrine pancreatic insufficiency and pancreatic cancer risk is higher among patients with hereditary pancreatitis caused by PRSS1 mutations compared to those with either truly idiopathic pancreatitis, or pancreatitis associated CFTR or SPINK1 mutations.
Genetic diagnosis is also considered an effective tool for family-member risk stratification. 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.
In this educational webinar, North American Marketing Manager Joe Jacher, MS, CGC and Executive Medical Director Dr Tero-Pekka Alastalo, MD, PhD will provide an introduction to genetic testing for inborn errors of immunity and examine Blueprint Genetics’ experience sequencing thousands of individuals suspected of having an inborn error of immunity.
Read moreGenetic testing is often a question for the whole family. In this educational webinar, Senior Geneticist Dr Kirsty Wells will talk through the different scenarios of when genetic testing for family members is potentially valuable. Case examples will be presented to illustrate how familial testing can make a crucial difference to the genetic testing outcome.
Read moreThe Blueprint Genetics clinical statement has been updated to provide quicker access to an overview of genetic test results. Following valued customer feedback, a summary of all findings has been added to the report.
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