We offer comprehensive genetic diagnostics for hereditary gastrointestinal diseases, including the gastrointestinal tract from the esophagus, stomach, small and large intestines to the rectum; as well as the accessory organs of digestion: the liver, gallbladder, and pancreas.

Genetic testing for gastroenterology

Many diseases affecting the gastrointestinal organs are inherited, or affect people that have a genetic predisposition toward disease expression. Recent research has uncovered the genes responsible for many of these conditions. These medical conditions vary in severity and extent, from singleorgan to multi-systemic disorders, and can decrease quality of life, cause lifelong health problems or, in the worst cases, premature death.

What genetic diagnostics can offer patients with gastroenterological diseases

Genetic diagnostics is 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 at-risk relatives makes it possible to begin preventive treatments and/or make recommendations on lifestyle, and justifies routine follow-ups by health care professionals. Genetic diagnosis can also help in family planning.

Find the right test for your patient

How to order

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.

Our clinical statement is industry leading.

See a sample report


Panel update for ophthalmology, gastroenterology, and pulmonology

Published on June 1, 2017

We are excited to announce the latest updates to our test menu. We have added some deep intronic and non-coding variants to the tested target regions that have been reported as pathogenic in the literature and are classified as likely pathogenic or pathogenic in ClinVar. These include for example the recurrent…

Read more
See all news


Transparency in genetic diagnostics

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.

See all podcasts


 Validation of clinical testing

[WHITE PAPER] Validation of clinical testing – Setting a new standard for clinical testing through fully transparent validation. Comprehensive analytic validation is a critical step in transparent genetic diagnostics. It demonstrates the quality and performance of the pipeline, and is the foundation for setting quality standards for the carried tests. Blueprint Genetics performs analytic…

Read more
See all resources

Subscribe to our newsletter