genetic testing
Tailor care with individualized insights
For children with early-onset gastrointestinal disorders or those with a family history of inherited illness, genetic testing can be a powerful tool to achieve precise answers that propel personalized treatment.
Our patient-focused genetic testing for hereditary GI conditions can clarify diagnosis for a range of genetic conditions and help oncologists understand their pediatric patients’ risk of developing certain illnesses in those with a family history of the disease.
Developed by Mayo Clinic experts and backed by genetic counselors, our assays use advanced and cutting-edge testing methods to evaluate genes with known disease associations. Use of a data-supported, algorithmic approach to testing ensures that each patient receives the right test at the right time. With personalized results that propel tailored treatment, our testing optimizes outcomes for patients with inherited conditions.
Pediatric genetic test menu
Cholestasis
Presenting with varying severity and symptoms, cholestasis has several genetic etiologies, including progressive familial intrahepatic cholestasis, tyrosinemia, alpha-1-antitrypsin deficiency, and mitochondrial disorders, among others. Early identification of gene variants associated with the condition can inform prognosis, treatment, and symptom management. If left untreated, cholestasis can lead to malabsorption, failure to thrive, liver damage, and other serious complications.
Key testing
- CHLGP | Cholestasis Gene Panel, Varies
- Establishes a molecular diagnosis for patients with cholestasis.
- Evaluates 112 genes for pathogenic variants.
- Identifies variants within genes known to be associated with cholestasis, enabling predictive testing of at-risk family members.
Highlights
Devin Oglesbee, Ph.D., explains how Mayo Clinic Laboratories' cholestasis gene panel identifies mutations that cause low flow of bile from the liver. Test results help guide treatment decisions that can prevent liver damage.
Hereditary pancreatitis
Our hereditary pancreatitis testing uses genetic sequencing to detect single nucleotide and copy number variants in four genes associated with hereditary pancreatitis.
Key testing
- PANGP | Expanded Pancreatitis Gene Panel, Varies
- This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in nine genes associated with an increased risk for pancreatitis: CASR, CEL, CFTR, CLDN2, CPA1, CTRC, PRSS1, SPINK1, TRPV6.
- Identification of a disease-causing variant or risk allele may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for pancreatitis.
- 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.
Highlights
Linda Hasadsri, M.D., Ph.D., and Huong Cabral, M.S., CGC, explain how Mayo Clinic Laboratories' expanded test panel captures rarer as well as more common genetic causes of hereditary pancreatitis. That information is key to managing patients' enhanced risk for pancreatic cancer.
Clinically relevant overview of key genetic factors, testing strategies, and post-result care.
Linda Hasadsri, M.D., Ph.D., and Huong T. Cabral, M.S., C.G.C., explain how Mayo Clinic Laboratories' targeted test panel facilitates accurate diagnosis of hereditary pancreatitis, which heightens the risk for pancreatic cancer. Test results can guide cancer monitoring for patients and their families.
Hereditary polyposis and gastrointestinal cancer
Including genetic disorders such as familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome, and juvenile polyposis syndrome, among others, hereditary gastrointestinal cancer syndromes can be difficult to manage due to multisystem involvement. Genetic testing can pinpoint the variant associated with the condition and help physicians customize disease surveillance and treatment in young patients.
Key testing
- 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.
Highlights
Wei Shen, Ph.D., and Rhianna Urban, M.S., CGC, explain how Mayo Clinic Laboratories' gene panel establishes a diagnosis of Lynch syndrome, which heightens the risk for several cancers. Test results can guide targeted cancer surveillance for patients and their families.
Monogenic inflammatory bowel disease
With indistinguishable endoscopic or histologic features, monogenic inflammatory bowel disease (IBD) and polygenic IBD can be difficult to differentiate and accurately diagnose via traditional methods.1 Despite having a similar presentation to polygenic IBD, however, monogenic IBD doesn’t typically respond to approved IBD therapies. This results in numerous children undergoing unnecessary invasive procedures and potentially harmful treatments.
Key testing
- EOIBD | Early Onset Monogenic Inflammatory Bowel Disease (IBD) Gene Panel, Varies
- Helpful for children with early-onset IBD, which typically occurs in children under age 6.
- Identifies genetic variants in 108 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, that are more prevalent in certain ancestral groups.
- Test results include detailed reports that contextualize findings to clarify disease presence, empowering ordering physicians to make a diagnosis based on patient-specific factors.
Highlights
Ann Moyer, M.D., Ph.D., explains how Mayo Clinic Laboratories' test panel provides comprehensive evaluation of patients with suspected monogenic early onset inflammatory bowel disease, or IBD. Accurate diagnosis is key to guiding therapy for patients, who might be as young as 2 years of age.
Identification of early-onset IBD patients may enable tailored treatment and surveillance plans. With over 50 genes implicated in early-onset IBD, genetic testing should be included in the workup of children under the age of six with IBD. Join Mayo Clinic, in this “Specialty Testing” webinar, for a discussion of this testing and its clinical application.
For a young child diagnosed with inflammatory bowel disease, an unexpected turn of events led by results of a Mayo Clinic Laboratories test freed him and his family from the bonds of frequent medical visits and expensive treatment, and opened the door to a life unencumbered by illness.
References
- Miller R, Aghdassi A, Kruse J, Lerch M, Simon P, Salloch S. Perceptions of genetic testing inpatients with hereditary chronic pancreatitis and their families: a qualitative triangulation. Eur J Hum Genet. 2021. 29:29-38. https://doi.org/10.1038/s41431-020-00705-9