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FeedbackAutoimmune Neurologic Diseases - Antineural Antibody Testing
Antibodies serve as markers of autoimmune neurologic disease and may be directly pathogenic.
Fluid biomarkers may be used to diagnose Alzheimer’s Disease in individuals with clinically identified cognitive impairment and may also be used in staging and treatment decision-making.
Laboratory evaluation can support a diagnosis of multiple sclerosis, determine appropriate treatment, monitor adverse effects of medication, and monitor for conditions such as leukopenia and lymphopenia.
Laboratory testing for autoimmune encephalitis includes an evaluation of serum and cerebrospinal fluid for antineural antibodies, assessment for disease mimics, and testing for other markers of autoimmunity.
Serologic testing, including testing for acetylcholine receptor binding antibodies and muscle-specific tyrosine kinase antibodies, may be useful to diagnose MG.
Neuromyelitis Optica Spectrum Disorders
Aquaporin-4 receptor or myelin oligodendrocyte glycoprotein immunoglobulin G (IgG) autoantibodies can be used to distinguish neuromyelitis optica spectrum disorders.
Autoimmune Neuropathies - Neuropathic Disease
Detection of an autoantibody in the appropriate clinical context provides evidence of autoimmune neuropathy.
Laboratory Testing for Developmental Delay, Intellectual Disability, and Autism Spectrum Disorder
Laboratory tests are used in etiologic investigation.
Primary Brain Tumors - Brain Tumor Molecular Markers
Testing plays a role in diagnosis, classification, prognosis, and treatment decision-making in individuals with primary brain tumors.
Fragile X (FMR1)-Associated Disorders
Molecular genetic testing for FMR1 mutations and premutations is used in diagnosis and carrier screening for fragile X-associated disorders.
Targeted or broad molecular genetic testing may be useful in the diagnosis of hereditary hearing loss.
Angelman Syndrome and Prader-Willi Syndrome
Molecular testing of the 15q11.2-q13 region is used to diagnose Angelman and Prader-Willi syndromes.
Identification of specific antibodies may be used in the diagnosis of inflammatory myopathies, including polymyositis, dermatomyositis, and other conditions.