Mayo Clinic Laboratories > Gastroenterology > Genetic testing

Genetic testing

Clinically meaningful, inclusive testing

Including an array of assays to identify heritable gastrointestinal disorders, liver disease, and pancreatic conditions, our genetic testing for gastroenterologic illness was developed by experts around the needs of the patient. Our focus on testing diversity and equity in healthcare translates into thoughtful test development that minimizes testing disparities based on genetic makeup. This decreases the overall risk of adverse events related to medical mismanagement.

Familial studies Familial studies
Familial studies

When a genetic variant of interest has been identified in a family member and follow-up testing for that variant in other family members is desired, we offer familial variant testing. More affordable, specific, and faster than full-gene or panel testing, our targeted familial testing is available whether or not the familial variant was detected by Mayo Clinic Laboratories.

Liver disease Liver disease
Liver disease

Identifying underlying genetic disorders plays an important role in the treatment and care of patients with liver disease. Our genetic evaluations for alpha-1-antitrypsin deficiency, lysosomal acid lipase deficiency, cholestasis, and Wilson disease can help assist in early identification of genetic liver diseases to prevent terminal organ damage.

Monogenic inflammatory bowel disease Monogenic inflammatory bowel disease
Monogenic inflammatory bowel disease

Our comprehensive monogenic IBD panel detects variants in 107 genes with established associations to monogenic IBD and primary immunodeficiencies that present with IBD-like features but may not respond to standard IBD treatments. This includes testing for genes associated with rare diseases with increased prevalence in certain ancestral groups.

Pancreatic disease Pancreatic disease
Pancreatic disease

Our hereditary pancreatic testing uses genetic sequencing to detect single nucleotide and copy number variants in genes associated with hereditary pancreatitis and hereditary pancreatic disorders.

Thiopurine management Thiopurine management
Thiopurine management

We offer both genotype and enzyme testing, which, when used in conjunction, can identify genetic variants associated with having an increased or decreased metabolism that puts patients at risk for thiopurine toxicity.

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