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26471 Epilepsy, Autoimmune Evaluation, Serum

Epilepsy, Autoimmune Evaluation, Serum
Test Code: EPS2SO
Synonyms/Keywords

AMPA-R Ab CBA, Amphiphysin Ab, Anti-Glial Nuclear Ab, Type 1, Anti-Neuronal Nuclear Ab, Type 1, Anti-Neuronal Nuclear Ab, Type 2, Anti-Neuronal Nuclear Ab, Type 3, CASPR2-IgG, Contactin-Associated Protein-Like-2 (CASPR2)-IgG, CRMP-5-IgG, DPPX, Dipeptidyl aminopeptidase-like protein 6, EPIES, GABA-B-R Ab CBA, Glutamic Acid Decarboxylase (GAD65), LGI1-IgG, Metabotropic glutamate receptor 1, mGluR1, NMDA-R Ab CBA, Purkinje Cell Cytoplasmic Ab Type 2, Purkinje Cell Cytoplasmic Ab Type Tr, Seizures, Spells, Leucine-Rich Glioma Inactivated Protein-1 IgG, Neurochondrin Ab (NCDN-2)

Useful For

Investigating new onset cryptogenic epilepsy with incomplete seizure control and duration of less than 2 years using serum specimens

Investigating new onset cryptogenic epilepsy plus 1 or more of the following accompaniments:

-Psychiatric accompaniments (psychosis, hallucinations)

-Movement disorder (myoclonus, tremor, dyskinesias)

-Headache

-Cognitive impairment/encephalopathy

-Autoimmune stigmata (personal history or family history or signs of diabetes mellitus, thyroid disorder, vitiligo, premature graying of hair, myasthenia gravis, rheumatoid arthritis, systemic lupus erythematosus, idiopathic adrenocortical insufficiency), or multiple sclerosis

-History of cancer

-Smoking history (20+ pack years) or other cancer risk factors

-Investigating seizures occurring within the context of a subacute multifocal neurological disorder without obvious cause, especially in a patient with past or family history of cancer

-A rising autoantibody titer in a previously seropositive patient suggests cancer recurrence​

Specimen Requirements
Specimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen VolumeSpecimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​Serum​Red Top Tube (RTT)​Serum Separator Tube (SST)​4 mL​2.5 mL
Collection Processing Instructions

Provide the following information:

-Relevant clinical information

-Ordering provider name, phone number, mailing address, and e-mail address

Patient Preparation:

1. For optimal antibody detection, specimen collection is recommended prior to initiation of immunosuppressant medication or intravenous immunoglobulin (IVIg) treatment.

2. This test should not be requested in patients who have recently received radioisotopes, therapeutically or diagnostically, because of potential assay interference. The specific waiting period before specimen collection will depend on the isotope administered, the dose given, and the clearance rate in the individual patient. Specimens will be screened for radioactivity prior to analysis. Radioactive specimens received in the laboratory will be held 1 week and assayed if sufficiently decayed, or canceled if radioactivity remains.

Specimen Stability Information
Specimen TypeTemperatureTime
​Serum ​ ​​Refrigerated (preferred)​28 days
​Frozen​28 days
​Ambient​72 hours
Rejection Criteria
Gross hemolysis
​Gross lipemia
​Gross icterus
Interference

​Negative results do not exclude autoimmune epilepsy or cancer.

This test does not detect Ma2 antibody (alias MaTa). Ma2 antibody has been described in patients with brainstem and limbic encephalitis in the context of testicular germ cell neoplasms. Scrotal ultrasound is advisable in men who present with unexplained subacute encephalitis.

Intravenous immunoglobulin (IVIg) treatment prior to the serum collection may cause a false-positive result.

Performing Laboratory Information
Performing LocationDay(s) Test PerformedReport AvailableMethodology/Instrumentation
​Mayo Clinic Laboratories​Profile tests: Monday through Sunday

Reflex tests: Varies
​8-12 days​AGN1S, AGNTS, AMPIS, AMPHS, APHTS, ANN1S, AN1TS, ANN2S, AN2TS, ANN3S, AN3TS, CRMTS, CRMS, DPPIS, DPPTS, GABIS, GFAIS, GFATS, GL1IS, GL1TS, NCDIS, NCDTS, NMDIS, PCAB2, PC2TS, PCATR, PCTTS: Indirect Immunofluorescence Assay (IFA)

AMPCS, CS2CS, DPPCS, GABCS, GFACS, LG1CS, GL1CS, NCDCS, NMDCS: Cell Binding Assay (CBA)

CRMWS: Western Blot (WB)

AGNBS, AMIBS, AN1BS, AN2BS, PCTBS: Immunoblot (IB)

GD65S: Radioimmunoassay (RIA)

Reference Lab
Test Information

​​Antiepileptic drugs (AED) are the mainstay of treatment for epilepsy, but seizures continue in one-third of patients despite appropriate AED therapeutic trials. The etiology of epilepsy often remains unclear. Seizures are a common symptom in autoimmune neurological disorders, including limbic encephalitis and multifocal paraneoplastic disorders. Seizures may be the exclusive manifestation of an autoimmune encephalopathy without evidence of limbic encephalitis.

Autoimmune epilepsy is increasingly recognized in the spectrum of neurological disorders characterized by detection of neural autoantibodies in serum or spinal fluid (CSF) and responsiveness to immunotherapy. The advent of more sensitive and specific serological detection methods is increasingly revealing previously underappreciated autoimmune epilepsies. Neural autoantibodies specific for intracellular and plasma membrane antigens aid the diagnosis of autoimmune epilepsy, but no single antibody is specific for this diagnosis.

Autoantibody specificities most informative for autoimmune epilepsies include leucine-rich glioma inactivated protein-1 (LGI1), glutamic acid decarboxylase-65 (GAD65), N-methyl-D-aspartate receptor (NMDA-R), alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors (AMPA-R), and gamma-aminobutyric acid type B receptor (GABA-B-R) antibodies.

Autoantibodies recognizing onconeural proteins shared by neurons, glia, or muscle (eg, antineuronal nuclear antibody, type 1 [ANNA 1]; collapsin response-mediator protein-5 neuronal [CRMP-5-IgG]; N-type calcium channel antibody), also serve as markers of paraneoplastic or idiopathic autoimmune epilepsies. A specific neoplasm is often predictable by the individual patient's autoantibody profile.

Suspicion for autoimmune epilepsy on clinical grounds justifies comprehensive evaluation of CSF and serum for neural autoantibodies. Selective testing for individual autoantibodies is not advised because each is individually rare, and a timely diagnosis is critical. Collectively, the antibodies tested for in the autoimmune epilepsy evaluations represent a broad spectrum of treatable disorders, some of which are associated with occult cancer. Testing of CSF for autoantibodies is particularly helpful when serum testing is negative, although, in some circumstances, testing both serum and CSF simultaneously is pertinent. Testing of CSF is recommended for some antibodies in particular (such as NMDA-R antibody and glial fibrillary acidic protein [GFAP]-IgG) because CSF testing is both more sensitive and specific. In contrast, serum testing for LGI1 antibody is more sensitive than CSF testing. Failure to detect a neural antibody does not exclude the diagnosis of autoimmune epilepsy when other clinical clues exist. A trial of immunotherapy is justifiable in those cases.

Reference Range Information
Performing LocationReference Range
​Mayo Clinic Laboratories​See interpretive report
Interpretation

Antibodies specific for neuronal, glial, or muscle proteins are valuable serological markers of autoimmune epilepsy and of a patient's immune response to cancer. These autoantibodies are not found in healthy subjects, and are usually accompanied by subacute neurological symptoms and signs. It is not uncommon for more than 1 of the following autoantibodies to be detected in patients with autoimmune dementia.

-Plasma membrane antibodies (N-methyl-D-aspartate: NMDA receptor; 2-amino-3-[5-methyl-3-oxo-1,2-oxazol-4-yl] propanoic acid: AMPA receptor; gamma-amino butyric acid: GABA-B receptor). These autoantibodies are all potential effectors of dysfunction.

-Antineuronal nuclear antibody, type 1 (ANNA-1) or type 3 (ANNA-3).

-Neuronal or muscle cytoplasmic antibodies (amphiphysin, Purkinje cell antibody-type 2: PCA-2, collapsin response-mediator protein-5 neuronal: CRMP-5-IgG, or glutamic acid decarboxylase: GAD65 antibody).

Outreach CPTs
CPTModifier
(if needed)
QuantityDescriptionComments
​86255​19​
​86341​1
Synonyms/Keywords

AMPA-R Ab CBA, Amphiphysin Ab, Anti-Glial Nuclear Ab, Type 1, Anti-Neuronal Nuclear Ab, Type 1, Anti-Neuronal Nuclear Ab, Type 2, Anti-Neuronal Nuclear Ab, Type 3, CASPR2-IgG, Contactin-Associated Protein-Like-2 (CASPR2)-IgG, CRMP-5-IgG, DPPX, Dipeptidyl aminopeptidase-like protein 6, EPIES, GABA-B-R Ab CBA, Glutamic Acid Decarboxylase (GAD65), LGI1-IgG, Metabotropic glutamate receptor 1, mGluR1, NMDA-R Ab CBA, Purkinje Cell Cytoplasmic Ab Type 2, Purkinje Cell Cytoplasmic Ab Type Tr, Seizures, Spells, Leucine-Rich Glioma Inactivated Protein-1 IgG, Neurochondrin Ab (NCDN-2)

Ordering Applications
Ordering ApplicationDescription
​Cerner​Epilepsy, Autoimmune Evaluation, Serum (EPS2)
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Specimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen VolumeSpecimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​Serum​Red Top Tube (RTT)​Serum Separator Tube (SST)​4 mL​2.5 mL
Collection Processing

Provide the following information:

-Relevant clinical information

-Ordering provider name, phone number, mailing address, and e-mail address

Patient Preparation:

1. For optimal antibody detection, specimen collection is recommended prior to initiation of immunosuppressant medication or intravenous immunoglobulin (IVIg) treatment.

2. This test should not be requested in patients who have recently received radioisotopes, therapeutically or diagnostically, because of potential assay interference. The specific waiting period before specimen collection will depend on the isotope administered, the dose given, and the clearance rate in the individual patient. Specimens will be screened for radioactivity prior to analysis. Radioactive specimens received in the laboratory will be held 1 week and assayed if sufficiently decayed, or canceled if radioactivity remains.

Specimen Stability Information
Specimen TypeTemperatureTime
​Serum ​ ​​Refrigerated (preferred)​28 days
​Frozen​28 days
​Ambient​72 hours
Rejection Criteria
Gross hemolysis
​Gross lipemia
​Gross icterus
Interference

​Negative results do not exclude autoimmune epilepsy or cancer.

This test does not detect Ma2 antibody (alias MaTa). Ma2 antibody has been described in patients with brainstem and limbic encephalitis in the context of testicular germ cell neoplasms. Scrotal ultrasound is advisable in men who present with unexplained subacute encephalitis.

Intravenous immunoglobulin (IVIg) treatment prior to the serum collection may cause a false-positive result.

Useful For

Investigating new onset cryptogenic epilepsy with incomplete seizure control and duration of less than 2 years using serum specimens

Investigating new onset cryptogenic epilepsy plus 1 or more of the following accompaniments:

-Psychiatric accompaniments (psychosis, hallucinations)

-Movement disorder (myoclonus, tremor, dyskinesias)

-Headache

-Cognitive impairment/encephalopathy

-Autoimmune stigmata (personal history or family history or signs of diabetes mellitus, thyroid disorder, vitiligo, premature graying of hair, myasthenia gravis, rheumatoid arthritis, systemic lupus erythematosus, idiopathic adrenocortical insufficiency), or multiple sclerosis

-History of cancer

-Smoking history (20+ pack years) or other cancer risk factors

-Investigating seizures occurring within the context of a subacute multifocal neurological disorder without obvious cause, especially in a patient with past or family history of cancer

-A rising autoantibody titer in a previously seropositive patient suggests cancer recurrence​

Reference Range Information
Performing LocationReference Range
​Mayo Clinic Laboratories​See interpretive report
Interpretation

Antibodies specific for neuronal, glial, or muscle proteins are valuable serological markers of autoimmune epilepsy and of a patient's immune response to cancer. These autoantibodies are not found in healthy subjects, and are usually accompanied by subacute neurological symptoms and signs. It is not uncommon for more than 1 of the following autoantibodies to be detected in patients with autoimmune dementia.

-Plasma membrane antibodies (N-methyl-D-aspartate: NMDA receptor; 2-amino-3-[5-methyl-3-oxo-1,2-oxazol-4-yl] propanoic acid: AMPA receptor; gamma-amino butyric acid: GABA-B receptor). These autoantibodies are all potential effectors of dysfunction.

-Antineuronal nuclear antibody, type 1 (ANNA-1) or type 3 (ANNA-3).

-Neuronal or muscle cytoplasmic antibodies (amphiphysin, Purkinje cell antibody-type 2: PCA-2, collapsin response-mediator protein-5 neuronal: CRMP-5-IgG, or glutamic acid decarboxylase: GAD65 antibody).

For more information visit:
Performing Laboratory Information
Performing LocationDay(s) Test PerformedReport AvailableMethodology/Instrumentation
​Mayo Clinic Laboratories​Profile tests: Monday through Sunday

Reflex tests: Varies
​8-12 days​AGN1S, AGNTS, AMPIS, AMPHS, APHTS, ANN1S, AN1TS, ANN2S, AN2TS, ANN3S, AN3TS, CRMTS, CRMS, DPPIS, DPPTS, GABIS, GFAIS, GFATS, GL1IS, GL1TS, NCDIS, NCDTS, NMDIS, PCAB2, PC2TS, PCATR, PCTTS: Indirect Immunofluorescence Assay (IFA)

AMPCS, CS2CS, DPPCS, GABCS, GFACS, LG1CS, GL1CS, NCDCS, NMDCS: Cell Binding Assay (CBA)

CRMWS: Western Blot (WB)

AGNBS, AMIBS, AN1BS, AN2BS, PCTBS: Immunoblot (IB)

GD65S: Radioimmunoassay (RIA)

Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPTModifier
(if needed)
QuantityDescriptionComments
​86255​19​
​86341​1
For most current information refer to the Marshfield Laboratory online reference manual.