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Gastroenterology

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.

 

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Genetic diagnostics for gastroenterological diseases

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.

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.

Our diagnostic process

From sample to clinical interpretation

  1. Ordering and sample preparation

    After receiving a patient’s medical history and sample we start the sample preparations in our CLIA certified laboratory.

  2. Sequencing

    We sequence the DNA in our lab with our proprietary targeted sequencing method OS-Seq™, developed at Stanford.

  3. Data analysis and interpretation

    We use our own proprietary automated bioinformatics pipeline to produce clinically relevant information - fast and reliably.

  4. Clinical statement

    Our team of geneticists and clinicians produce a comprehensive clinical statement to support the diagnosis of your patient.

  1. Sample
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  2. Sequencing
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  3. Analysis
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  4. Report
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