| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
Diagnosis of Lynch syndrome, an autosomal dominant cancer syndrome associated with germline variations in MLH1, MSH2, MSH6, PMS2, and/or EPCAM genes, is complex and requires several tests. This often leads to confusion over which test should be ordered and when.
HEREDITARY COLON CANCER TEST MENU
High-microsatellite instability (MSI) and/or defective-mismatch repair (MMR) are considered hallmark features of Lynch syndrome, and, while not diagnostic, results from MSI and MMR testing will identify patients for whom further testing, including germline sequencing, is appropriate. Our algorithmic approach aids with the ordering process and guides physicians to ensure the right tests are being ordered at the right time.
Key testing
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.
Since 1992, cases of colorectal cancer have been on a slow decline, yet 52,550 people died from it in 2023. At Mayo Clinic, a cutting-edge menu of both germline (inherited genetic alterations) and somatic (tumors due to non-inherited genetic alterations) testing are two critical tools helping to improve targeted treatments for colorectal and other common gastrointestinal cancers.
Dr. Linda Hasadsri’s firsthand encounter with the genetic tests she’s helped develop has provided rare insight into testing quality and implications, enhancing their ability to advocate for the value of testing and infusing their work with deep empathy.