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.
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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.
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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 researchers have developed and validated a new antibody test to diagnose multiple sclerosis (MS). The new test is an automated and cost-effective method compared to other tests used to diagnose MS, according to the research published in Mayo Clinic Proceedings. The test is now available through Mayo Clinic Laboratories.
Div Dubey, M.B.B.S., explains Mayo Clinic Laboratories' phenotypic testing approach for autoimmune axonal neuropathy. The comprehensive, serologic panel detects for antibodies with clinical relevance to the disease to provide clarity on etiology, prognosis, and treatment choices.
Advanced testing at Mayo Clinic Laboratories that confirmed a diagnosis of myasthenia gravis put Lorinda McKinley on the road to renewed health after she nearly lost it all to the rare autoimmune disease.
The discovery of Kelch like protein 11 (KLHL11) IgG as a specific biomarker of neurological autoimmunity associated testicular germ cell tumor.
Divyanshu (Div) Dubey, M.B.B.S., explains how Mayo Clinic Labs’ new Kelch-11 antibody test — the first in the world — can confirm diagnosis, guide treatment, and improve outcomes in patients affected by testicular cancer-associated paraneoplastic encephalitis.
Mayo Clinic Laboratories has launched a first-in-the-U.S. autoimmune test of the Kelchlike protein 11 antibody, or KLHL11, which is used to detect autoimmune disease associated with testicular cancer.
In this month’s “Hot Topic,” Andrew McKeon, M.B., B.Ch., M.D., reviews the use of neurological phenotype-based evaluations, the move away from the paraneoplastic evaluation, and upcoming changes to test profiles.
Andrew McKeon, M.B., B.Ch., M.D., discusses updates that are being made to Mayo Clinic Laboratories' autoimmune profile that will remove some antibodies from those profiles. He describes the rationale behind the updates, reviews which antibodies are involved, and explains how the changes will streamline testing and enhance test interpretation.
Based on studies that have shown certain antibodies may not be as clinically relevant to autoimmune testing as previously thought, Mayo Clinic Laboratories is updating a number of its autoimmune profiles by removing some antibodies from them.
Christopher Klein, M.D., discusses Mayo Clinic’s updated myasthenia gravis and Lambert-Eaton syndrome testing approach. Automatic reflex to second-line testing saves time and increases sensitivity and specificity to confirm diagnosis in patients with atypical presentation.
Andrew McKeon, M,B., B.Ch., M.D., provides an overview of Mayo Clinic Laboratories' new paraneoplastic vision loss evaluation — a test that can help direct a cancer diagnosis and guide treatment. He reviews why this test was developed, when it should be ordered, and how the results can affect patient care.
In this month’s “Hot Topic,” John Mills, Ph.D., explains the central role of tissue immunofluorescence in the identification of neural antibodies and discusses the benefits of an integrated laboratory approach to the development and validation of novel antibody biomarkers.
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.