Autoimmune Neurologic Disease Panel With Reflex, Serum and CSF

Content 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
Serum CSF

Autoimmune Encephalopathy/Dementia Panel

3006201

3006202

Autoimmune Epilepsy Panel

3006204

3006205

Autoimmune Movement Disorder Panel

3006206

3006207

Autoimmune Myelopathy Panel

3006208

3006209

Autoimmune Dysautonomia Panel

3006203

Autoimmune Pediatric CNS Disorders

3006210

3006211

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 ARUP Autoimmune Neurology Panel Components.

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 Marker Method
Individual Autoantibody or Focused Panel Test Code

Serum

CSF

AChR binding Ab, IgGa

RIA

0080009

AMPAR Ab, IgG

CBA-IFA

3001260

3001257

Amphiphysin Ab, IgG

IB

2008893

3004510

ANNA-1 (Hu)

IFA, reflex IB, reflex titer

2007961

2010841

ANNA-2 (Ri)

IFA, reflex IB, reflex titer

2007961

2010841

AQP4 Ab, IgG

CBA-IFA, reflex titer

2013320

2011699

CASPR2 Ab, IgG

CBA-IFA, reflex titer

2009452

3001986

CV2 (CRMP-5) Ab, IgG

CBA-IFA, reflex titer

3016999

3017001

DPPX Ab, IgG

CBA-IFA, reflex titer

3004359

3004512

GABA-AR Ab, IgG

CBA-IFA, reflex titer

3006008

3006003

GABA-BR Ab, IgG

CBA-IFA, reflex titer

3001270

3001267

GAD65 Ab

ELISA

2001771

3002788

Ganglionic AChR Ab, IgG

RIA

3003020

IgLON5 Ab, IgG

CBA-IFA, reflex titer

3006018

3006013

ITPR1 Ab, IgG

CBA-IFA, reflex titer

3006031

3006023

LGI1 Ab, IgG

CBA-IFA, reflex titer

2009456

3001992

mGluR1 Ab, IgG

CBA-IFA, reflex titer

3006044

3006039

MOG Ab, IgG

CBA-IFA, reflex titer

3001277

NMDAR Ab, IgG

CBA-IFA, reflex to titer

2004221

2005164

PCCA-1 (Yo)

IFA, reflex IB, reflex titer

2007961

2010841

PCCA-Tr/DNER

IFA, reflex IB, reflex titer

2007961

2010841

P/Q-type VGCC Ab, IgG

RIA

0092628

SOX1 (AGNA) Ab, IgG

IB

3002885

3002886

VGKC Ab, IgG

RIA

2004890

3001387

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

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

Reflex patterns for Autoimmune Neurologic Disease panels

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
Result Interpretation

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