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HelpTest ID EPIEC Epilepsy, Autoimmune Evaluation, Spinal Fluid
Useful For
Investigating new onset cryptogenic epilepsy with incomplete seizure control and duration of <2 years
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
Profile Information
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| AEPCI | Epilepsy, Interpretation, CSF | No | Yes |
| NMDCC | NMDA-R Ab CBA, CSF | No | Yes |
| VGKCC | VGKC-complex Ab IPA, CSF | No | Yes |
| GD65C | GAD65 Ab Assay, CSF | Yes | Yes |
| GABCC | GABA-B-R Ab CBA, CSF | No | Yes |
| AMPCC | AMPA-R Ab CBA, CSF | No | Yes |
| ANN1C | Anti-Neuronal Nuclear Ab, Type 1 | No | Yes |
| ANN2C | Anti-Neuronal Nuclear Ab, Type 2 | No | Yes |
| ANN3C | Anti-Neuronal Nuclear Ab, Type 3 | No | Yes |
| AGN1C | Anti-Glial Nuclear Ab, Type 1 | No | Yes |
| PCA2C | Purkinje Cell Cytoplasmic Ab Type 2 | No | Yes |
| PCTRC | Purkinje Cell Cytoplasmc Ab Type Tr | No | Yes |
| AMPHC | Amphiphysin Ab, CSF | No | Yes |
| CRMC | CRMP-5-IgG, CSF | No | Yes |
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| WBNC | Paraneoplas Autoantibody WBlot,CSF | No | No |
| CRMWC | CRMP-5-IgG Western Blot, CSF | No | No |
| ABLTC | Amphiphysin Western Blot, CSF | No | No |
| NMOCC | NMO/AQP4-IgG CBA, CSF | Yes | No |
| AMPIC | AMPA-R Ab IF Titer Assay, CSF | No | No |
| GABIC | GABA-B-R Ab IF Titer Assay, CSF | No | No |
| NMDIC | NMDA-R Ab IF Titer Assay, CSF | No | No |
| PCA1C | Purkinje Cell Cytoplasmic Ab Type 1 | No | No |
Testing Algorithm
If indirect immunofluorescence assay (IFA) (ANN1C, ANN2C, ANN3C, PCA2C, PCTRC, AMPHC, CRMC, AGN1C) is indeterminate, then paraneoplastic autoantibody Western blot is performed at an additional charge.
If client requests or if IFA patterns suggest CRMP-5-IgG, then CRMP-5-IgG Western blot is performed at an additional charge.
If IFA patterns suggest amphiphysin antibody, then amphiphysin Western blot is performed at an additional charge.
If IFA pattern suggest NMO/AQP4-IgG, then NMO/AQP4-IgG CBA is performed at an additional charge.
If IFA pattern suggest AMPA-Receptor antibody and AMPA-Receptor antibody CBA is positive, then AMPA-Receptor antibody IF titer assay is performed at an additional charge.
If IFA pattern suggest GABA-B-Receptor antibody and GABA-B-R Receptor Ab antibody is positive, then GABA-B-R Receptor Ab antibody IF titer assay is performed at an additional charge.
If IFA pattern suggest NMDA-Receptor antibody and NMDA-Receptor Ab antibody CBA is positive, then NMDA-Receptor Ab antibody IF titer assay is performed at an additional charge.
If IFA patterns suggest PCA-1, then Purkinje Cell Cytoplasmic antibody Type 1 assay is performed at an additional charge.
Western Blot:
1. Native neuronal antigens: performed to confirm neuronal nuclear and cytoplasmic Ab specificities when IF screening is uninterpretable.
2. Recombinant human collapsin response-mediator protein-5: performed to confirm CRMP-5-IgG when IF screening is uninterpretable. Also performed for more sensitive detection of CRMP-5-IgG.
See Epilepsy Autoimmune Evaluation Algorithm, Spinal Fluid in Special Instructions
Special Instructions
Method Name
ANN1C, ANN2C, ANN3C, AGN1C, PCA1C, PCA2C, PCTRC, AMPHC, CRMC, AMPIC, GABIC, NMDIC: Indirect Immunofluorescence Assay (IFA)
AMPCC, GABCC, NMDCC: Cell-Binding Assay (CBA)
GD65C: Immunoprecipitation Assay
VGKCC: Radioimmunoassay Assay (RIA)
WBNC, CRMWC, ABLTC: Western Blot
Reporting Name
Epilepsy-Autoimmune Evaluation, CSFSpecimen Type
CSFContainer/Tube: Sterile vial
Specimen Volume: 4 mL
Additional Information: Include name, phone number, mailing address, and e-mail address (if applicable) of ordering physician.
Forms: If not ordering electronically, complete, print, and send a Neurology Test Request Form (T732) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/neurology-request-form.pdf)
Specimen Minimum Volume
2 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| CSF | Refrigerated (preferred) | 28 days |
| Frozen | 28 days | |
| Ambient | 72 hours |
Clinical Information
Antiepileptic drugs (AEDs) 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 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 currently most informative for autoimmune epilepsies include voltage-gated potassium channel-complex (VGKC-complex), glutamic acid decarboxylase-65 (GAD65), N methyl-D-aspartate receptor (NMDAR), alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors (AMPAR) and gamma aminobutyric acid type B receptor (GABABR) 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, and acetylcholine receptor [muscle AChR] binding 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 cerebral spinal fluid and serum for neural autoantibodies. Selective autoantibody testing is not advised because no single neural antibody is definitively associated with seizures, and markers of occult cancer may be missed. 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 Values
NEURONAL NUCLEAR ANTIBODIES
Antineuronal Nuclear Antibody-Type 1 (ANNA-1)
<1:2
Antineuronal Nuclear Antibody-Type 2 (ANNA-2)
<1:2
Antineuronal Nuclear Antibody-Type 3 (ANNA-3)
<1:2
Anti-Glial/Neuronal Nuclear Antibody-Type 1 (AGNA-1)
<1:2
NEURONAL AND MUSCLE CYTOPLASMIC ANTIBODIES
Purkinje Cell Cytoplasmic Antibody, Type 1 (PCA-1)
<1:2
Purkinje Cell Cytoplasmic Antibody, Type 2 (PCA-2)
<1:2
Purkinje Cell Cytoplasmic Antibody, Type TR (PCA-TR)
<1:2
Amphiphysin Antibody
<1:2
Collapsin Response-Mediator Protein-5 Neuronal (CRMP-5-IGG)
<1:2
ISLET CELL ANTIBODIES
Glutamic Acid Decarboxylase (GAD65) Antibody Assay
≤0.02 nmol/L
AMPA-Receptor Antibody By CBA
CBA: Negative
IFA: <1:2
GABA-B-Receptor Antibody By CBA
CBA: Negative
IFA: <1:2
NMDA-Receptor Antibody By CBA
CBA: Negative
IFA: <1:2
Neuronal Voltage-Gated Potassium Channel-Complex Autoantibody
≤0.02 nmol/L
WESTERN BLOT
Paraneoplastic Autoantibody, Western Blot Confirmation
Negative
Collapsin Response-Mediator Protein-5-IGG (CRMP-5-IGG) Western Blot
Negative
Amphiphysin Antibody Western Blot
Negative
Neuromyelitis Optica (NMO)/Aquaporin-4-Igg Cell-Binding Assay
Negative
Cautions
Negative results do not exclude autoimmune epilepsy or cancer.
The Epilepsy, Autoimmune Evaluation 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.
Day(s) Performed
ANNA-1, ANNA-2, ANNA-3, AGNA-1, PCA-1, PCA-2, PCA-Tr, Amphiphysin, CRMP-5-IgG, AMPIC, GABIC, NMDIC: Monday through Friday; 11 a.m.
AMPCC, GABCC, NMDCC: Monday through Friday; 6 a.m.
Paraneoplastic autoantibody Western blot confirmation, CRMP-5-IgG Western blot, Amphiphysin Western blot: Monday through Friday; 6 a.m.
GAD65, VGKC: Sunday through Thursday; 10 p.m.
Report Available
3 days if negative/5 days if positivePerforming Laboratory
Mayo Medical Laboratories in Rochester
Test Classification
See Individual ComponentsCPT Code Information
83519-Neuronal VGKC autoantibody
86255-AGNA-1
86255-Amphiphysin
86255-ANNA-1
86255-ANNA-2
86255-ANNA-3
86255-CRMP-5-IgG
86255-PCA-2
86255-PCA-Tr
86255-AMPAR-Ab
86255-GABAR-Ab
86255-NMDAR-Ab
86341-GAD65
86255-PCA-A (if appropriate)
84182-Amphiphysin Western blot (if appropriate)
84182-CRMP-5 Western blot confirmation (if appropriate)
84182-Paraneoplastic autoantibody Western blot confirmation (if appropriate)
86255-NMO/AQP4-IgG CBA (if appropriate)
86256-AMPAR-Ab titer (if appropriate)
86256-GABAR-Ab titer (if appropriate)
86256-NMDAR-Ab titer (if appropriate)