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

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


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

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.

Highlights


References
  1. 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
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