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.

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.

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.

Since March 2020, the COVID-19 pandemic has had a lasting impact on the lives of millions of people around the world, including the many brave health care workers who risked their own health to provide lifesaving care to those infected by the virus. That care was made possible, in part, by the lasting impact that the pandemic has also had on laboratory testing.

Mayo Clinic Laboratories expanded movement disorders panel better identifies autoimmune conditions. Four recently identified biomarkers — septin-5, septin-7, neurochondrin, and adaptor protein-3B2 — have been added to the panel, and all four have been shown to respond to immunotherapy.

Mayo Clinic Laboratories is committed to innovation that provides the right test at the right time for the right patients. That effort always starts with identifying gaps in patient care. Filling those gaps sometimes involves not developing new tests but finding ways to make existing tests more efficient and easier for patients.

Offering increased sensitivity and improved accuracy, MayoComplete next-generation testing ensures health care providers understand the distinctive genetic features of their patients’ cancer to make informed decisions to guide their care.

Utilizing testing capabilities of two separate laboratory facilities, Mayo Clinic Laboratories’ new serotonin release assay (SRA) is a gold-standard test supported by decades of clinical hematopathologic experience and advanced mass spectrometry testing.

In a groundbreaking study, Mayo Clinic investigators have developed a multiomic molecular method to predict clinical COVID-19 (SARS-CoV-2) outcomes better than traditional cytokines. Using a machine-learning-based prediction model, the team identified 102 biomarkers, which include several novel cytokines and other proteins, lipids, and metabolites. The discovery may help clinicians reliably predict a more severe course of COVID-19 before the patient gets sick enough to be hospitalized. Until now, there have been no biomarkers that can reliably predict which patients are more likely to have severe illness.

In Mayo Clinic’s Advanced Diagnostics Laboratory, there are dozens of projects underway at once to develop new technologies, discover novel findings, validate new tests, and support physicians in providing advanced patient care. For example, researchers are using phage immunoprecipitation sequencing (PhIP-Seq) to discover new serological biomarkers for autoimmune diseases. In a recent study using PhIP-Seq, Mayo Clinic researchers discovered a previously unknown antibody marker for immune-mediated rippling muscle disease (iRMD). This finding will support testing options and accurate diagnosis of iRMD, helping physicians treat patients with iRMD and restore their quality of life.

In a recent study, Mayo Clinic researchers developed the first cellular DNA barcoding with a machine-learning approach to reveal previously unknown metastatic behavior of tumor cells. Researchers barcoded the DNA of millions of human ovarian cancer cells and transplanted them in mice, where rare tumor initiating cells and their progenies could be tracked within the primary tumor as well as in every other organ they were spreading into. The entire community of cells generated by a single barcoded cell had identical barcodes. This enabled the tracking of a large number of benign and metastatic clones by sequencing DNA barcodes in tumors and various organs, including blood and ascites. Using the cellular DNA barcoding approach and a newly developed data analysis system, researchers could track clonal growth dynamics in various metastatic sites and trace it back to its ancestral tumor-initiating cell. They used artificial intelligence to tackle the complex data to identify if the clonal metastatic spread is happening peritoneally or through blood routes.

Bringing together advanced testing technology, unparalleled expertise, and a patient-focused approach, Mayo Clinic Laboratories’ new high-resolution urine drug testing profile, ADMPU, evaluates for 22 drug classes including alcohol, marijuana, and nicotine, enabling clarity on substance use and precision insights that propel treatment.