Delivering faster answers to more patients 

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.

For many, the path to a correct diagnosis can be long and filled with uncertainty. This story highlights the resilience and determination of one patient who navigated a complex medical journey to find answers and hope at Mayo Clinic. The patient asked to remain anonymous for personal privacy reasons.

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.

After years of misdiagnosis, Tyler Hart found answers at Mayo Clinic, discovering he had NF155-IgG4 autoimmune nodopathy instead of CIDP

An order-entry, clinical decision support tool developed by physicians and scientists at Froedtert and the Medical College of Wisconsin (MCW) for clinicians within the healthcare system who order autoimmune and paraneoplastic antibody panels has significantly improved test utilization, resulting in a 28% reduction in monthly test volumes of impacted tests.

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.

Justin Fugelsang and Zach Pedowitz have never met. Yet both young men were diagnosed with a rare form of Charcot-Marie-Tooth disease, called sorbitol dehydrogenase (SORD) deficiency, and both found clarity through Mayo Clinic Laboratories' innovative SORD testing. Their journeys inspire resilience, as Justin has channeled his emotions into guitar playing, and Zach has embraced educational leadership.

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.

JoAnne Michael’s symptoms started with dizziness and forgetfulness before down spiraling into severe confusion, crying jags, and brain seizures. ER doctors at her local hospital initially thought she was on drugs. JoAnne, terrified, wondered if she was dying. Luckily, she had a guardian angel by her side: her mother, a retired nurse practitioner, who took her to Mayo Clinic, where the clinical experience and expertise of neurologist Andrew McKeon, M.B., B.Ch., M.D., helped give her a diagnosis and hope for a journey back to health.

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.

When Samantha Duke discovered she had breast cancer, she didn’t have to look far for support. Her mother Jane walked a similar path 16 years earlier. Inspired both by her mom and the strong network of healthcare physicians and professionals on her team, Samantha remained positive throughout her treatment and is committed to advancing research on breast cancer.

Aiming to advance understanding of hard-to-predict gastroenteropancreatic neuroendocrine tumors (GEP-NETs), Thermo Fisher Scientific joined forces with Mayo Clinic and BioPharma Diagnostics to validate and gain U.S. regulatory clearance of a novel, automated assay aimed at detecting a biomarker associated with the progressive disease.