Autoimmune pediatric Disorders
Designed specifically for children
Mayo Clinic Laboratories’ first-of-its-kind profile only includes antibodies pertinent to pediatric CNS disorders — all in one evaluation. The antibodies included are supported by clinical research, and test results can help with diagnosis and long-term treatment planning.
Autoimmune pediatric Disorders Test menu
Autoimmune pediatrics
Key testing
- PCDEC | Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Spinal Fluid
- PCDES | Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Serum
Advantages
- Evaluates for the presence of multiple antibodies with known associations to pediatric-onset central nervous system disorders.
- Requires both serum and spinal fluid samples for improved detection.
- Enables insights on diagnosis, prognosis, and treatment response.
- Facilitates treatment selection.
Highlights
Anastasia Zekeridou, M.D., Ph.D., explains how Mayo Clinic Laboratories' updated panels and methodology boost the accuracy and efficiency of testing for three autoimmune neurology biomarkers. Early diagnosis is key to managing debilitating conditions associated with these antibodies.
Andrew McKeon, M.B., B.Ch., M.D., explains how Mayo Clinic Laboratories' pediatric autoimmune/CNS testing can better guide the treatment of autoimmune neurological diseases in children. The tailored evaluation covers only biomarkers relevant to pediatric presentations of the diseases.
The clinical presentations, evaluation (including diagnostic antibody testing), and treatment of autoimmune pediatric CNS disorders, including encephalitides and myelopathies.
GABA-A RECEPTOR ANTIBODIES
Our cell-based GABA-A receptor antibody test is recommended — in conjunction with other autoimmune neurology profiles — for patients who present with encephalopathy with seizures. These patients also typically have multifocal large cerebral temporal and extra-temporal T2 signal abnormalities without enhancement. GABA-A receptor antibodies are biomarkers of autoimmune encephalopathy, which may occur at any age and disproportionately affects children. GABA-A receptor antibodies are the third most common neuronal biomarker in children, behind only NMDA receptor and MOG antibodies. Because disease associated with the GABA-A receptor antibody is responsive to immunotherapy if treated early, accurate and timely testing is critical.
Key testing
- GBACC | Gamma-Amino Butyric Acid Type A (GABA-A) Receptor Antibody by Cell Binding Assay, Spinal Fluid
- GBACS | Gamma-Amino Butyric Acid Type A (GABA-A) Receptor Antibody by Cell Binding Assay, Serum
Advantages
- Specific phenotype (88% of patients have refractory seizures).
- Evaluating GABA-A receptor improves diagnostic sensitivity thereby increasing physician confidence.
- Provides reliable confirmation of GABA-A receptor-associated disease without the need for reflex testing.
- 75% of GABA-A receptor-positive patients had a partial or complete recovery with proper treatment.1
- Direct a search for cancer when appropriate (thymoma).
Additional testing
Can be ordered as a standalone test in addition to the autoimmune encephalopathy, autoimmune epilepsy, or pediatric CNS autoimmune evaluations in patients who present with encephalopathy with seizures.
- EPC2 | Epilepsy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
- EPS2 | Epilepsy, Autoimmune/Paraneoplastic Evaluation, Serum
Highlights
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.
Anastasia Zekeridou, M.D., Ph.D., explains how Mayo Clinic Laboratories' updated panels and methodology boost the accuracy and efficiency of testing for three autoimmune neurology biomarkers. Early diagnosis is key to managing debilitating conditions associated with these antibodies.
Divyanshu Dubey, M.B.B.S., explains how Mayo Clinic Laboratories' unique PDE10A and TRIM46 tests facilitate the management of central nervous system disorders triggered by cancers. Early diagnosis and treatment are important for managing disabling neurological symptoms and malignancy.
Antibody against the GABA-A receptor is a biomarker of autoimmune encephalopathy that occurs across the lifespan, and disproportionately affects children. In this test-specific episode of the "Answers From the Lab" podcast, Andrew McKeon, M.B., B.Ch., M.D., explains how Mayo Clinic Laboratories' GABA-A receptor antibody assay aids diagnosis of this serious but treatable condition.
References
- O'Connor K, Waters P, Komorowski L, et al. GABAA receptor autoimmunity: A multicenter experience. Neurol Neuroimmunol Neuroinflamm. 2019;6(3):e552. Published 2019 Apr 4. doi:10.1212/NXI.0000000000000552