Eye on Innovation

Artificial intelligence (AI) is reshaping laboratory medicine, not as a distant promise, but as a practical tool improving diagnostics, workflows, and quality. Through collaborative development, rigorous validation, and a commitment to ethical innovation, Mayo Clinic Laboratories is implementing AI-driven solutions that enhance precision, reduce turnaround times, and empower laboratorians to focus on what matters most: patient care.

A random urine test panel aids in diagnosing mast cell activation syndrome (MCAS), a complex condition often misdiagnosed due to overlapping symptoms. The panel improves access, speeds up diagnosis, and enables individualized treatment by detecting key mast cell mediators.

Mayo Clinic Laboratories’ newly expanded Hereditary Pancreatitis Gene Panel is transforming how clinicians diagnose and manage a complex, often elusive disease. Developed through close collaboration between lab scientists, genetic counselors, and clinicians, the test uses a whole exome sequencing backbone to analyze nine carefully selected genes with strong clinical relevance. This focused approach avoids ambiguous results while empowering early diagnosis, cancer risk assessment, and family testing. Built on a whole exome backbone with reflex capabilities, the panel represents a major step forward in precision medicine — offering clarity for patients and providers, and a platform for future genomic innovation.

By using a test that measures neurofilament light chain (Nfl) proteins in blood, clinicians can better diagnose devastating diseases like ALS and MS, help predict disease progression, and better assess efficacy of existing drugs and trial therapies.

Performed on cerebrospinal fluid, Mayo Clinic’s RT-QuIC prion test can distinguish prion disease from other types of rapidly progressive dementias to enhance patient care.

New diagnostic tests specifically for conditions that predominantly or only affect women, such as autoimmune diseases and gynecological cancers, are empowering female patients and their physicians to make informed decisions.

Mayo Clinic Laboratories has developed a cutting-edge suite of Alzheimer's disease testing. The newest assays use blood samples, avoiding the need for lumbar punctures to obtain cerebrospinal fluid. The testing suite exemplifies Mayo Clinic Laboratories' innovative business approach. As a platform company, Mayo Clinic is creating a diagnostics ecosystem to meet a wide range of testing needs and help physicians order the right tests for their patients.

Mayo Clinic Laboratories has introduced a revolutionary diagnostic test for bile acid malabsorption, a significant contributor to chronic diarrhea. Developed by Dr. Michael Camilleri and Dr. Leslie Donato, this new bile acid malabsorption panel simplifies diagnosis and improves patient care by eliminating the need for special diets or prolonged stool collection. The test's effectiveness has been validated internationally, offering new treatment avenues for patients. Discover how this innovative test is transforming clinical practice and enhancing patient outcomes.

Central nervous system infections, such as meningitis and encephalitis, can be devastating for affected patients. While specific treatments are available for some of these infections, it first requires identifying the precise cause of infection. To meet that need, Mayo Clinic Laboratories has developed a metagenomics assay that can identify more than 1,000 pathogenic organisms in cerebrospinal fluid. The innovative assay, which uses an approach known as shotgun metagenomic sequencing, is one of the only such tests currently available.

Mayo Clinic Laboratories introduces the Inherited Parkinson’s Disease Gene Panel (Mayo ID: PARDP), a collaborative breakthrough poised to transform Parkinson’s disease diagnosis and treatment. Led by Rodolfo Savica, M.D., Ph.D., and Zhiyv (Neal) Niu, Ph.D., this comprehensive test offers unparalleled insights into Parkinson’s genetics, unveiling novel gene associations and enhancing diagnostic precision through next-generation sequencing. The panel’s capabilities include detecting subtle genetic variations and identifying familial patterns, promising personalized medicine advancements.

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.

Recognizing the powerful role genes can play in diagnosing illness and guiding treatment, the Division of Laboratory Genetics and Genomics at Mayo Clinic spearheaded a testing expansion, implementing and upgrading more than 60 advanced sequencing and biochemical assays in 2023 and planning for even more this year.