Delivering faster answers to more patients 

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.

CT scans and hiatal/abdominal ultrasounds could not uncover why, whenever he ate steak, Joseph Ducaji experienced severe stomach problems, itchy hives, chills, and nausea. It took specialized testing from Mayo Clinic to unlock a little-known condition caused by a tick bite (and, no, it’s not Lyme disease).

Since March 2019, Paul Jannetto, Ph.D., director of the Metals Laboratory at Mayo Clinic, along with his colleagues across the enterprise and his laboratory staff, have developed, validated, and implemented an artificial intelligence (AI)-augmented test with algorithms designed to interpret kidney stone FTIR spectra. With more than 90,000 kidney stones analyzed each year at Mayo Clinic, this new AI-assisted test has streamlined lab processes and improved patient care.

It’s been more than three years since a team of specialists and genetic testing by Mayo Clinic Laboratories helped pinpoint the cause of Alexa Lofaro’s failing health. And today, she says she continues to feel “so much better” than she did when she first came to Mayo Clinic.

Almost four years ago, Mayo Clinic launched the Digital Pathology Program, a major pathology initiative. Phase 2 of this multi-phase rollout has recently been completed, which involved the implementation of cutting-edge digital equipment and software, and converting glass slides of patient samples into digital images. The conversion enables pathologists and laboratory technologists to view, store, retrieve, and share medical images more universally, without waiting for glass slides to be retrieved and delivered. This has significantly improved patient care because pathologists can now discuss cases with clinicians and surgeons in real time.