Autoimmune Neurologic Disease Panel With Reflex, Serum and CSF

Last Literature Review: May 2023 Last Update:

Autoimmune neurologic diseases represent a broad category of conditions characterized by immune dysregulation. Antibodies associated with these conditions may be present in the serum or cerebrospinal fluid (CSF) and can serve as useful markers of disease. Testing for these antineural antibodies should be considered when patients experience subacute onset of new, unexplained neurologic symptoms.

Disease Overview

Autoimmune neurologic diseases may localize to the peripheral nervous system or central nervous system (CNS). They can manifest with diverse symptoms including (but not limited to) brainstem or cerebellar syndromes, dysautonomia, encephalopathy, epilepsy, movement disorders, myelopathy, psychiatric changes, or rapidly progressive dementia. Antineural antibodies serve as useful markers of these diseases, and their detection may help establish a diagnosis, support treatment decisions, aid prognostication, serve as a prerequisite for enrollment in clinical trials, and guide the search for an associated malignancy.

For more information about laboratory testing for autoimmune neurologic diseases, including detailed information about panel test selection, refer to the ARUP Consult Autoimmune Neurologic Diseases - Antineural Antibody Testing topic.

Test Description

ARUP’s serum or CSF Autoimmune Neurologic Disease With Reflex panels can be used for the evaluation of patients with subacute onset of neurologic symptoms with possible autoimmune etiology. Testing for the presence of antineural antibodies in both serum and CSF is recommended in most situations. 

These panels cover a broad range of autoimmune neurologic phenotypes; for greater diagnostic yield and improved turnaround time, consider choosing a phenotype-specific panel (see table below) rather than a broad panel.

ARUP Phenotype-Specific Panels to Consider for Autoimmune Neurologic Disease
ARUP Panel

Test Code

SerumCSF
Autoimmune Encephalopathy/Dementia Panel30062013006202
Autoimmune Epilepsy Panel30062043006205
Autoimmune Movement Disorder Panel30062063006207
Autoimmune Myelopathy Panel30062083006209
Autoimmune Dysautonomia Panel3006203—
Autoimmune Pediatric CNS Disorders30062103006211

Regardless of the panel chosen, order only one panel for serum and/or one panel for CSF; many antineural antibodies are redundant between these panels, and choosing based on the predominant phenotype will provide the most meaningful results. To compare these panels and the antibodies included, refer to the ARUP Antineural Antibody Testing for Autoimmune Neurologic Disease page.

Testing for individual autoantibodies is also available separately and can be used for long-term monitoring.

Antibodies Tested and Methodology

Autoimmune Neurologic Disease Panel With Reflex, Serum (3006051) and CSF (3006052): Antibodies Tested and Methodology
Autoantibody MarkerMethod

Individual Autoantibody or Focused Panel Test Code

SerumCSF
AChR binding Ab, IgGaRIA0080009—
AMPAR Ab, IgGCBA-IFA30012603001257
Amphiphysin Ab, IgGIB20088933004510
ANNA-1 (Hu)IFA, reflex IB, reflex titer20079612010841
ANNA-2 (Ri)IFA, reflex IB, reflex titer20079612010841
AQP4 Ab, IgGCBA-IFA, reflex titer20133202011699b
CASPR2 Ab, IgGCBA-IFA, reflex titer20094523001986
CV2 (CRMP-5) Ab, IgGCBA-IFA, reflex titer30169993017001
DPPX Ab, IgGCBA-IFA, reflex titer30043593004512
GABA-AR Ab, IgGCBA-IFA, reflex titer30060083006003
GABA-BR Ab, IgGCBA-IFA, reflex titer30012703001267
GAD65 AbELISA20017713002788
Ganglionic AChR Ab, IgGRIA3003020—
IgLON5 Ab, IgGCBA-IFA, reflex titer30060183006013
ITPR1 Ab, IgGCBA-IFA, reflex titer30060313006023
LGI1 Ab, IgGCBA-IFA, reflex titer20094563001992
mGluR1 Ab, IgGCBA-IFA, reflex titer30060443006039
MOG Ab, IgGCBA-IFA, reflex titer3001277—
NMDAR Ab, IgGCBA-IFA, reflex to titer20042212005164
PCCA-1 (Yo)IFA, reflex IB, reflex titer20079612010841
PCCA-Tr/DNERIFA, reflex IB, reflex titer20079612010841
P/Q-type VGCC Ab, IgGRIA0092628—
SOX1 (AGNA) Ab, IgGIB30028853002886
VGKC Ab, IgGRIA20048903001387

aPerformed via reflex only, depending on the results of other autoantibody tests; refer to Reflex Patterns flowchart.

bTesting for AQP4 Ab is not included in the Autoimmune Neurologic Disease Panel With Reflex, CSF panel.

Ab, antibody; AChR, acetylcholine receptor; AGNA, antiglial nuclear antibody; AMPAR, alpha-amino-3-hydroxy-5-methyl-4-izoxazolepropionic acid receptor; ANNA, antineuronal nuclear antibody; AQP4, aquaporin-4; CASPR2, contactin-associated protein 2; CBA, cell-binding assay/cell-based assay; CRMP-5, collapsin response-mediator protein 5; DNER, Delta/notch-like epidermal growth factor-related receptor; DPPX, dipeptidyl-aminopeptidase-like protein 6; GABA-AR, gamma-aminobutyric acid receptor, type A; GABA-BR, gamma aminobutyric acid receptor, type B; GAD65, glutamic acid decarboxylase antibody 65-kd isoform; IFA, indirect immunofluorescence assay; Ig, immunoglobulin; IgLON5; IgLON family member 5; ITPR1, inositol 1,4,5-triphosphate receptor type 1; LGI1, leucine-rich, glioma-inactivated protein 1; mGluR1, metabotropic glutamate receptor 1; MOG, myelin oligodendrocyte glycoprotein; NMDAR, N-methyl-D-aspartate receptor antibody; PCCA, Purkinje cell cytoplasmic antibody; RIA, radioimmunoassay; SOX1, SRY-box transcription factor 1; VGCC, voltage gated calcium channel; VGKC, voltage-gated potassium channel

Reflex Patterns

Autoimmune Neurologic Disease Panel With Reflex, Serum (3006051) and CSF (3006052) 

testing algorithm

Limitations

These tests do not include all known antineural antibodies:

  • Some antibodies are extremely rare or are of uncertain clinical significance.
  • As testing for newly described antibodies becomes available and their clinical relevance is established, these panels will evolve to reflect these discoveries.

Test Interpretation

Results

Results must be interpreted in the clinical context of the individual patient; test results (positive or negative) should not supersede clinical judgement.

Autoimmune Neurologic Disease Panel With Reflex, Serum (3006051) and CSF (3006052): Results Interpretation
ResultInterpretation
Positive for ≥1 autoantibodies

Autoantibody(ies) detected

May support a diagnosis of autoimmune neurologic disease

Consider a focused search for malignancy based on antibody-tumor associations

Negative

No autoantibodies detected

A diagnosis of autoimmune neurologic disease is not excluded

References