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.

The fifth episode of “Life of a Specimen” video series highlights Joy Carol’s treatment journey after Mayo Clinic Laboratories antibody testing identified a paraneoplastic autoimmune disorder as the cause of her life-threatening symptoms.

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

The fourth episode of “Life of a Specimen” video series explores the diagnosis enabled by antibody testing on Joy Carol’s cerebrospinal cord fluid and how her test result illuminated a path forward.

The third episode of “Life of a Specimen” video series discusses the integration that drives the development of innovative tests, including the movement disorders evaluation, at Mayo Clinic Laboratories.

Check out the second episode of “Life of a Specimen,” a video exploration of the complex path taken by patient samples through testing at Mayo Clinic Laboratories. In this episode, we hear about the quality processes and careful treatment given to each sample received for testing.

Check out the first episode of “Life of a Specimen,” a video series that examines the critical journey taken by patient samples through Mayo Clinic Laboratories testing. In this video, we learn about the profound impact of our testing on one extraordinary patient.

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.