Where clinical expertise meets scientific discovery
Elevating autoimmune neurology diagnosis with progressive, phenotype-specific testing
For decades, Mayo Clinic Laboratories has pushed the boundaries of autoimmune neurology testing, combining antibody research, clinical expertise, and testing innovation to develop patient-focused evaluations that expedite accurate diagnosis. Grounded in a phenotypic approach, our industry-leading autoimmune and paraneoplastic evaluations enable confident ordering based on clinical presentation and results that provide a clear picture of a patient’s condition.
The vanguard of clinically significant testing
Mayo Clinic Laboratories has always been on the cutting-edge of discovering new, clinically relevant antibodies, such as septin-5, septin-7, and PDE10A. But whether antibodies are discovered here or elsewhere, our evaluations are regularly updated to ensure every relevant antibody is being evaluated for your patient. Unlike traditional, underpowered paraneoplastic and autoimmune testing, which can lead to false positives and missed diagnoses, our evaluations are optimized to provide accurate answers that put patients on the right treatment path more quickly.
Clarity, not questions
As the field of autoimmune neurology evolves, antibodies once identified as clinically relevant and important for diagnosis, such as voltage-gated potassium channel (VGKC) complex antibodies, have been found to lack clinical significance and increase the risk of false-positive results and inappropriate treatment.1 As a result, these antibodies have been removed from our panels.
At the same time, antibodies once dismissed as rare or of unclear significance, such as KLHL11 and GFAP, are now understood to identify treatable disorders — still uncommon, but likely underrecognized. These antibodies are seldom included in nonspecific, traditional paraneoplastic evaluations, but are included in our evaluations, as they are clinically meaningful when assessed in the context of the applicable phenotype.
“When you look at all the labs in the U.S. that do this kind of testing, of the clinically relevant antibodies currently available to patients, in many cases the Mayo Clinic Neuroimmunology Laboratory has been the one to discover that antibody, or has played a major role in establishing the clinical utility of an antibody test.”
John Mills, Ph.D., co-director, Neuroimmunology Laboratory
Expedite diagnosis with purpose-built evaluations
Neurological 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 a single test can also lead to cost savings, which may not be true of traditional, underpowered paraneoplastic evaluations.
If the right antibody is not identified up front, additional tests may need to be ordered, potentially subjecting patients to another specimen collection and unnecessarily delaying treatment. If a traditional, limited paraneoplastic evaluation 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
The latest
Autoimmune neurology testing has evolved beyond limited paraneoplastic evaluations to phenotype-specific panels that identify clinically relevant antibodies. This phenotype-specific approach significantly improves diagnostic accuracy, reduces false positives, and helps guide faster, more personalized treatment for complex neurological diseases.
Autoimmune encephalitis (AE) is a rare but serious condition, and accurate diagnosis is critical. Misdiagnosis can lead to unnecessary treatments, delayed care, and preventable complications.
Learn how a phenotype-specific autoimmune neurology evaluation diagnosed a treatable autoimmune encephalitis condition that was missed with a traditional paraneoplastic evaluation.
What started as a persistent headache for Spencer Lodin soon devolved into slowed speech, seizures, and hallucinations, symptoms which stumped ER doctors into thinking he had meningitis or was suffering from psychosis. Finally, specialized testing at Mayo Clinic identified Spencer's condition as GFAP-IgG associated autoimmune encephalitis, which allowed for targeted treatment and a full recovery.
One summer morning, James Kypuros awoke to find his toes stiffened like claws. Then he started having falls, which culminated in losing his ability to walk or even sit up without help. Diagnosed with stiff-person syndrome, James wouldn’t find hope or relief until he was treated for glycine receptor antibody syndrome following specialized testing by Mayo Clinic.
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.
References
- 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.