Gastroenterology

Genetic testing for gastroenterology

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.

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

New buccal swabs for easier sample collection available from November 23, 2020

Nov 09, 2020

New Ora-Collect OCR-100/OCD-100 buccal swabs will be available for healthcare providers to order through our website or online portal, Nucleus. This new specimen collection kit addresses the need for more accessible sample collection, especially for pediatric patients or when collecting sufficient sample volume with a traditional saliva kit is otherwise challenging.

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Webinars

Variantes de significado incierto (VUS) – interpretación, clasificación y manejo

Nov 05, 2020

Las variantes de significado incierto (VUS) a menudo se consideran resultados no deseados en las pruebas genéticas. ¿Qué pasos podemos seguir para entender mejor este tipo de variantes? En este seminario web, la Dra. Raquel Pérez Carro, genetista en Blueprint Genetics, presentará en detalle cómo interpretar y clasificar las variantes de significado incierto y los próximos pasos a considerar para obtener una posible reclasificación.

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