TEST CODE: 008843

DIAGNOSTIC TEST FOR: GASTROENTEROLOGY

TURNAROUND TIME: 10–21 calendar days (14 days on average)

PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube

ALTERNATE SPECIMENS: DNA or saliva/assisted saliva

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 be offered to 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.

What are the benefits of genetic testing?

Genetic testing produces information that may help you or your healthcare provider:

– establish or confirm your specific diagnosis 


– provide an explanation of the underlying cause 
of your heart condition

– uncover potential risk of developing an underlying, multisystem condition that affects more than your heart 


– make informed medical decisions and provide an opportunity to start risk reduction strategies 


– identify other at-risk relatives for whom genetic testing is recommended 


– make informed family planning decisions 


Genomed’s Gastroenterology panels

– Cholestasis Panel

– Congenital Diarrhoea Panel

– Congenital Hepatic Fibrosis Panel

– Gastrointestinal Atresia Panel

– Hirschsprung Disease Panel

– Pancreatitis Panel

– Polycystic Liver Disease Panel

Please contact us for the complete list of genes included on the multi-Gastroenterology panel and associated conditions.

What are the potential results?

A POSITIVE TEST RESULT CAN:

If testing identifies a variant associated with heart disease, consult with your healthcare provider to create a management plan and to identify relatives who may need to be tested.

A NEGATIVE TEST RESULT:

If testing identifies no variants associated with a hereditary heart disease, the underlying cause of your heart condition remains unknown. As our knowledge of genetics improves, additional genetic testing may become available.

AN UNCERTAIN VARIANT TEST RESULT:

In some cases, testing can identify a variant, but it is not known at this time whether the variant is associated with heart disease. If new information about your family history of heart conditions becomes available, this could change what your test results mean for you and your relatives. Always let your healthcare provider know if there are any updates regarding your family medical history.

Take action based on your results.

With Genomed, you can make health decisions based on your results. Our medical-grade tests are the same tests used by doctors and genetic counselors. Based on your results, you can work with your healthcare provider to consider:

– increased or earlier screenings

– lifestyle modifications

– early intervention to prevent the onset of disease