Avoiding missed diagnoses and misdiagnoses in autoimmune neurology
Phenotype-specific evaluations provide diagnostic confidence
Patients with autoimmune neurological conditions deserve the best chance at an accurate diagnosis. These answers can make a real difference in a patient’s treatment and quality of life.
Traditional, underpowered paraneoplastic evaluations can lead to false-positive results or missed diagnoses. With our autoimmune and paraneoplastic phenotype-specific evaluations, physicians can order with confidence and diagnose with efficiency, putting patients on the right treatment path sooner.
The complete diagnostic picture
As the field of autoimmune neurology evolves, antibodies once dismissed as rare or of unclear significance are now understood to identify treatable disorders—still uncommon, but likely underrecognized. These antibodies are seldom included in non-specific, traditional paraneoplastic evaluations.
Read more
The two most common antibodies, NMDA-R and GAD65, which account for almost half (46.1%) of positive cases of autoimmune/paraneoplastic encephalitis in adults, are available in our phenotype-specific evaluations but are seldom included in the limited, traditional paraneoplastic evaluations offered by other labs. The third most common antibody, LGI1, which represents 20.5% of positive cases, is also not found in most limited traditional paraneoplastic evaluations.1
In addition, some antibodies that were previously thought to aid diagnosis lack clinical relevance, which can lead to false-positive results and inappropriate treatment. For example, the voltage-gated potassium channel (VGKC) complex antibodies, found in some limited paraneoplastic evaluations, have been shown to lack clinical relevance and increase the risk of false-positive results.2
Stay at the forefront
At Mayo Clinic Laboratories, our research, clinical, and lab experts have developed an approach to autoimmune neurology testing that uses clinically relevant evaluations to lead to confident conclusions. Our evaluations make it easy for physicians to order the appropriate evaluation based on clinical presentation and feel confident they are getting a complete picture of their patient’s condition.
Mayo Clinic Laboratories is on the cutting edge of discovering new, clinically relevant antibodies, such as septin-5, septin-7, and PDE10A. Whether they are discovered here or elsewhere, we update our evaluations to ensure every relevant antibody is being evaluated for your patient. With our paraneoplastic phenotype-specific evaluations, you will always be at the cutting edge.
Do more for patients and providers
Paraneoplastic phenotype-specific evaluations ensure only the right test is performed for the patient, when it is needed, avoiding diagnostic delays and the need for redraws. Ruling out autoimmune-related causes of a patient’s condition with one test can also lead to cost savings, which may not be true of traditional, underpowered paraneoplastic evaluations.
Read more
If the right antibody is not identified up front, additional tests may need to be ordered, potentially subjecting patients to another draw and unnecessarily delaying treatment. If a traditional limited paraneoplastic evaluations is ordered first and the result is negative, the patient’s diagnostic journey continues. Additional inconclusive tests may add cost and cause more patient distress.
Our approach provides peace of mind, knowing every path has been considered to reach the right diagnosis in the most efficient manner.
Autoimmune testing education
Explore the advantages of our autoimmune neurology testing.
Learn more about how our testing can make a difference for your patients. Schedule a time to discuss with one of our clinical specialists.
The latest
In this presentation, Eoin Flanagan, M.B., B.Ch., a leading specialist in neuroimmunology at Mayo Clinic, provides a clear and clinically focused overview of autoimmune conditions that affect the developing nervous system.
Mayo Clinic Laboratories invites you to explore our latest microlearning on neuromyelitis optica spectrum disorder (NMOSD). In this concise educational module, Sean Pittock, M.D., explains the critical role of AQP4-IgG testing in the early diagnosis and treatment of NMOSD.
In this video, Dr. Vijay Ramanan shares perspectives on rational approaches to testing in the cognitive neurology, mild cognitive impairment, and dementia settings.
November 3, 2025 - In this video, Dr. Andrew McKeon describes how the field of autoimmune neurology testing has changed with the explosion of antibody discovery and discusses the importance of a patient-first, phenotype-based approach.
September 29, 2025 - This session provides an in depth overview of evolving diagnostic approaches in neuroimmunology.
After mysterious neurological symptoms began in 2010, Brad Karon, M.D., Ph.D., was diagnosed with paraneoplastic syndrome, a rare condition that led to groundbreaking research and test development at Mayo Clinic. Years later, pulmonary fibrosis and a double lung transplant would test him once again — and redefine his resilience.
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.
Resources
References
- Kunchok A, McKeon A, Zekeridou A, et al. Autoimmune/paraneoplastic encephalitis antibody biomarkers: frequency, age, and sex associations. Mayo Clin Proc. March 2022;97(3):547-559. https://doi.org/10.1016/j.mayocp.2021.07.023
- Lang B, Makuch M, Moloney T, et al. Intracellular and non-neuronal targets of voltage-gated potassium channel complex antibodies. J Neurol Neurosurg Psychiatry. 2017 Apr;88(4):353-361. doi:10.1136/jnnp-2016-314758. Epub 2017 Jan 23.