Easing the journey

Integrated, end-to-end testing in one laboratory

Mayo Clinic’s commitment to meeting the needs of every patient, from the smallest to the tallest, is central to our approach to pediatric gastroenterology testing. Developed in collaboration with Mayo Clinic’s top-ranked GI experts, our comprehensive menu of disease-specific tests enables personalized answers to optimize outcomes for the youngest patients.

Our integrated approach to pediatric and adult testing enables coordinated evaluations for family members who display similar gastrointestinal presentations. We offer a robust menu of genetic tests to identify inherited disorders and provide insights about genetic variations associated with disease presence. A focus on diversity and equity in health care translates into testing that minimizes iatrogenic health care disparities in certain populations. This lowers the risk of poor outcomes related to medical mismanagement and medication-related toxicity.  


By the numbers

25%

of patients with IBD present before age 201

20%

of all patients with ulcerative colitis are diagnosed in childhood2

15%

of patients with IBD presenting before age 6 may have a monogenetic disorder3




Clinically backed evaluations

From serologic testing for inflammatory bowel disease (IBD), to genetic analysis for celiac disease, to noninvasive fecal testing for Helicobacter pylori, our pediatric testing menu spans the spectrum of GI conditions. Our expansive test offerings, combined with utilization of emerging technologies, provide physicians an array of clinically backed choices that enable rapid results for time-sensitive treatment decisions. Because we understand the burden of invasive specimen collection on children, we offer non- or minimally invasive testing options whenever possible.

Inflammatory bowel disease testing

Mayo Clinic Laboratories offers an array of testing to assist with the diagnosis and management of IBD, including first-line fecal testing for Calprotectin; serologic analysis of clinically relevant antibodies; and genetic evaluation to assist in diagnosing early-onset IBD.

Key testing

CALPR | Calprotectin, Feces

  • First-line testing to help differentiate between IBD and IBS.
  • Can help prevent invasive procedures or imaging studies.
  • When used for initial diagnosis, fecal calprotectin has a sensitivity and specificity of approximately 85%.
  • Treatment algorithms based on fecal and C-reactive protein concentrations to monitor inflammatory activity and clinical symptoms leads to superior outcomes compared to treatment algorithms based on clinical management alone in patients with early Crohn’s disease.4
  • Can be used as a surveillance tool to maximize therapeutic success with patients on biologic therapy.4

IBDP2 | Inflammatory Bowel Disease Serology Panel, Serum

  • Used to confirm IBD when diagnosis made using flexible sigmoidoscopy or colonoscopy with mucosal biopsy doesn’t clearly differentiate between ulcerative colitis and Crohn’s disease.
  • Based on significant peer-reviewed literature.
  • Examines only characteristic patterns of antibodies with demonstrated clinical utility, including saccharomyces (IgA and IgG) and neutrophil-specific antibodies (perinuclear anti-neutrophilic cytoplasmic antibody [pANCA]).
  • Excludes results that lack clinical relevance, minimizing unnecessary costs and leaving room for physician interpretation based on individual patients and medical assessments.
  • Particularly useful for differentiating between Crohn’s disease and ulcerative colitis in pediatric populations.4

IBDGP | Inflammatory Bowel Disease Primary Immunodeficiency (PID) Panel, Varies

  • Helpful for children with early-onset IBD, which typically occurs in children under age 6.
  • Identifies genetic variants in 51 genes with known associations to IBD and immunodeficiency.
  • Can help establish diagnosis and, in some cases, support appropriate management and surveillance for disease features based on the involved gene.
  • Includes testing for genes associated with rare diseases, such as Mediterranean fever, which are more prevalent in certain ethnic groups.
  • Noninvasive, child-friendly specimen collection option (finger stick).

Thiopurine management testing

Thiopurines are widely known as effective treatment for patients with IBD. However, a significant portion of these patients displays individual variation in thiopurine metabolism, resulting in increased risk for adverse reactions and/or a suboptimal therapeutic response. Thiopurine testing is particularly important for pediatric patients, as well as patients of specific ethnicities who show an increased prevalence of genes associated with thiopurine toxicity.5 Learn more about Mayo Clinic’s approach to pediatric thiopurine testing.

Testing for biologics management

Our reflexive approach to measure adalimumab and infliximab concentrations aligns with the American Gastroenterology Association (AGA) and can guide physicians in making treatment decisions for pediatric IBD patients. We perform only clinically relevant testing for patients who have very low-trough drug concentrations in their serum, benefitting patients and reducing costs for ordering institutions.

Key tests

Reflexive testing

INFXR | Infliximab Quantitation with Reflex to Antibodies to Infliximab, Serum

  • This assay has been verified to measure antibodies to infliximab and the biosimilars infliximab-dyyb, infliximab-abda, and infliximab-axxq.

Panel testing

For newer therapies that lack well-established therapeutic thresholds and optimal concentrations associated with good outcomes, panel testing that performs for quantitation and antibody analysis can be useful.

Biomarker analysis

Targeted biomarker analysis has recently shown utility in determining risk of immunogenicity to anti-TNF therapies. A recent genome-wide associate study performed in a cohort of 1,610 anti-TNF-naïve patients with Crohn’s disease found carriers of the HLA-DQA1*05 allele had almost double the risk of immunogenicity to anti-TNF therapies.6

CELI | Celiac Associated HLA-DQ Alpha 1 and DQ Beta 1 DNA Typing, Blood

  • Determines immunogenicity to anti-TNF therapy through genetic typing of HLA-marker DQA1*05 allele.
  • Guides decision-making on using mono- versus combination treatments.
  • Can help identify the cause of therapeutic failure for patients on anti-TNF therapy suspected of treatment ineffectiveness if and when the patient’s therapy is changed.

Celiac disease testing

Mayo Clinic Laboratories’ algorithmic approach to celiac disease testing enables definitive answers to a diagnostically challenging condition.

Key tests

Cascade benefits:

  • Cascading algorithms developed in collaboration with Mayo Clinic GI experts.
  • Reflects AGA guidelines.
  • Automatically reflex to perform necessary testing.
  • Includes both serologic and genetic testing (HLA DG typing).
  • Can completely rule out CD in about 50% of patients based on HLA typing.
  • Reports include individual test results, clinical interpretation, and recommendations on whether to proceed to biopsy or pursue another diagnosis.

Comprehensive, consolidative testing

Mayo Clinic Laboratories’ FilmArray gastrointestinal panel is a multi-plex polymerase chain reaction (PCR) test that quickly and quantitatively detects 13 types of bacteria, four parasites, and five viruses from stool.

Key test

GIP | Gastrointestinal Pathogen Panel, PCR, Feces

  • Can qualitatively detect DNA or RNA of 22 pathogens from stool in about an hour.
  • Interpreted results can guide an effective treatment plan for drugs or environmental controls to help patient reduce the risk of passing infectious diarrhea to others.
  • Recommended for patients with community-acquired diarrhea that lasts for more than seven days; travel-related diarrhea; and those with severe warning signs or risk factors.

Testing for malabsorption disorders

Malabsorption syndrome encompasses several disorders, including disaccharidase deficiency, that impact the ability of the small intestine to absorb macronutrients, micronutrients, or both. Because malabsorption syndrome can be caused by myriad factors, identifying the underlying issue is critical for treatment success. We use a panel-based approach to evaluate patients for disaccharidase deficiency when serological testing, imaging studies, and breath testing are negative.

Key test

DSAC | Disaccharidase Activity Panel, Tissue

  • Examines tissue samples, taken as part of endoscopy, to gain quantitative values of lactase, sucrase, maltase, palatinase, and glucoamylase.
  • Test reports include clinical results interpretation.

Helicobacter pylori testing

Mayo Clinic Laboratories offers a unique, noninvasive option that uses a single fecal specimen for rapid molecular detection of H. pylori. Clinically available only through Mayo Clinic Laboratories, this polymerase chain reaction (PCR) assay defines clarithromycin susceptibility based on interrogating the three 23S ribosomal RNA gene mutations most commonly associated with clarithromycin resistance. Our H. pylori diagnostic algorithm can help determine who is a good candidate for this test. Learn more about Mayo Clinic’s approach to H. pylori testing.

Testing for inherited disorders

Mayo Clinic Laboratories offers targeted testing for hereditary GI conditions to help oncologists understand their patients’ risk of developing certain illnesses, including some cancers, in children with a family history of the disease. Developed by Mayo Clinic experts and backed by genetic counselors, these evaluations use next-generation sequencing to evaluate genes with known disease associations for insights that propel personalized treatment for patients identified as having inherited syndromes.

Key test

HPPAN | Hereditary Pancreatitis Panel, Varies

  • Confirms clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis.
  • Identifies gene mutations that contribute to pancreatitis in an individual or family.
  • Identifies gene mutations to allow for predictive and diagnostic testing in family members.

CRCGP | Hereditary Gastrointestinal Cancer Panel, Varies

  • Establishes diagnosis of a hereditary gastrointestinal cancer syndrome or hereditary polyposis syndrome, which allows for targeted cancer surveillance based on associated risks.
  • Identifies genetic variants associated with increased risk for GI cancer and polyposis, allowing for predictive testing and appropriate screening of at-risk family members.

CHLGP | Cholestasis Gene Panel, Varies

  • Establishes a molecular diagnosis for patients with cholestasis.
  • Identifies variants within genes known to be associated with cholestasis, enabling predictive testing of at-risk family members.

Learn more about how to order these tests at your institution.


References

  1. Baldassano RN, Piccoli DA. Inflammatory bowel disease in pediatric and adolescent patients. Gastroenterol Clin North Am. 1999;28(2):445–458. 
  2. Siow VS, Bhatt R, Mollen KP. Management of acute severe ulcerative colitis in children. Semin Pediatr Surg. 2017 Dec;26(6):367-372.
  3. Sudabeh A, et al. The global, regional and national burden of inflammatory bowel disease in 195 countries and territories, 1990-2019: a systemic analysis of the global burden of disease study 2017. The Lancet Gastroenterolgy and Hepatology. 2020;5(1):17-30.
  4. Colombel JF, et al. Effect of thigh control management on Crohn’s disease (CALM): A multicenter, randomized, controlled phase 3 trial. Lancet. 2017 Dec 23;390(10114):2779-2789.
  5. Reese GE, et al. Diagnostic precision of anti-Saccaromyces cerevisiae antibodies and perinuclear antineutrophil cytoplasmic antibodies in inflammatory bowel disease. Am J Gastroenterol. 2006 Oct;101(10):2410-22.
  6. Moyer, A. NUDIT15: A Bench to Bedside Success Story. Clinical Biochemistry. 2021;9211:1-8.
  7. Kennedy, Nicholas A, et al. Predictors of anti-TNF treatment failure in anti-TNF-naive patients with active luminal Crohn's disease: a prospective, multicentre, cohort study. The Lancet Gastroenterology & Hepatology. 2019;4(5):341-353.