Transforming test results into actionable insights

Endometrial cancer affects thousands annually and ranks as the fourth most common cancer among women in the United States. At the forefront of innovative discoveries in endometrial cancer diagnostics are Mayo Clinic's Department of Laboratory Medicine and Pathology consultants. Sounak Gupta, M.B.B.S., Ph.D., vice chair of Oncology Practice for the Division of Laboratory Genetics and Genomics; Maryam Shahi, M.D., senior consultant for Anatomic Pathology; and Andrea Mariani, M.D., M.S., division chair of Gynecologic Surgery, explore the critical significance of molecular profiling and collaborative efforts driving these innovations, highlighting Mayo Clinic’s revolutionary influence on patient care.

One summer morning, James Kypuros awoke to find his toes stiffened like claws. Then he started having falls, which culminated in losing his ability to walk or even sit up without help. Diagnosed with stiff-person syndrome, James wouldn’t find hope or relief until he was treated for glycine receptor antibody syndrome following specialized testing by Mayo Clinic.

For over two decades, Mayo Clinic has been at the forefront of cardiovascular (CV) genetic testing. The current test menu features 24 different panels that span over 300 genes linked to inherited cardiovascular disorders, many of which are rare and challenging to diagnose. Whereas many labs operate in a “silo” — meaning they take a genetic specimen, test it, and then return a result with limited input — Mayo Clinic takes a much more expansive approach.

After immigrating to the United State and becoming a U.S. citizen at the age of 18, Holocaust survivor Kurt Glover-Ettrich chose to give back to his new homeland by serving a 30-year career in the U.S. military. Today, as a Mayo Clinic volunteer, Kurt is giving back in new ways for the 22 years of regular care, treatment, and laboratory testing he’s received in response to the prostate cancer diagnosis that first brought him to Mayo Clinic.

In a recent discovery by Mayo Clinic Laboratories, a novel hemoglobinopathy category was identified and termed epsilon gamma thalassemia. The first instance of the disorder was found in 2017 when an obstetric patient underwent a routine screening for blood-related illnesses such as sickle cell disease and thalassemia. Upon completion of additional tests, doctors found an abnormality they had never seen before.

In August of 2021, 28-year-old Mike Knudson, a Twin Cities resident known for his vibrant and active lifestyle, set out on what he anticipated to be an adventurous hiking vacation to the picturesque Glacier National Park in Montana. Little did he know that this journey in nature would be the start of an unexpected life path.

Mayo Clinic’s cardiac (CV) remote monitoring service uses the compact MoMe Kardia cardiac monitoring device that yields a continuous, 24/7 stream of a patient’s ECG and motion data, no matter their location. Any troubling or burgeoning events are observed virtually the moment they occur, allowing one of Mayo Clinic’s certified rhythm analysis technicians to intervene and facilitate care in near real time. And this is only the beginning; remote patient services are the way of the future, and the future is already here.

An avid runner and fitness buff, Mark Kocak didn’t think he needed medication for his high cholesterol and hypertension. After coming to Mayo Clinic for ceramide testing, Mark knew exercise alone would not be enough to him on a path toward greater longevity.

Her father was a heavy smoker who eventually needed bypass surgery for his clogged arteries, and three of her sisters died prematurely from heart attacks. So, as Stephanie Blendermann approached the age of 65, she had good reason to think her family history would catch up with her sooner or later. That is, until she came to Mayo Clinic for ceramide testing, which helped to change the trajectory of her life.

Tying together the expertise and curiosity of Mayo Clinic autoimmune neurology researchers with eager patients who have rare disease and are looking for answers, the innovative collaboration benefits both patients affected by MOGAD and scientists on the front lines of discovery.

Joe Mondloch and his wife Sue have existed in a grey area of uncertainty due to the unpredictable autoimmune neurological illness Joe has lived with for the last seven years. Rare, incurable, and debilitating, the newly classified disorder can be hard to manage. But thanks to information and direction provided by a rare disease advocacy group, the Mondlochs sought care at Mayo Clinic and received much more than answers.

VEXAS syndrome is a severe autoinflammatory disease that results in a spectrum of rheumatologic and hematologic conditions. The underlying cause of newly identified VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome — somatic mutations in the UBA1 gene of blood cells — was discovered at the National Institutes of Health (NIH) in 2020. Within six months, Mayo Clinic Laboratories was able to add a UBA1 test to the MayoComplete panel, as the team simultaneously worked on a single gene assay to allow doctors to test specifically for UBA1 mutations to screen patients for VEXAS syndrome. The team opted for a droplet digital PCR test — a novel and highly accurate approach to testing for UBA1 gene mutations.