Gastroenterology

Genetic testing for gastroenterology

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.

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.

What genetic diagnostics can offer patients with gastroenterological diseases

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.

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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

Webinars

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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