Autoimmune Dysautonomia Panel, Serum

Content Review: May 2023 Last Update:

Autoimmune dysautonomia encompasses disorders of ganglionic neurons, autonomic nerve fibers, peripheral autonomic synapses, and central autonomic pathways; these disorders are associated with antineural antibodies. Detection of antineural antibodies may help to establish a diagnosis, inform additional testing, support treatment decisions, and guide the search for an associated malignancy.

Disease Overview

Autoimmune dysautonomias may be paraneoplastic or idiopathic, have a subacute or insidious onset, and may present as generalized pandysautonomia or as a more limited form. Symptoms of dysautonomia include anhidrosis, bladder dysfunction, cardiac arrhythmias, gastrointestinal dysmotility (unexplained weight loss, early satiety, anorexia, nausea, vomiting, constipation, or diarrhea), impaired pupillary light reflex, orthostatic hypotension, and bladder dysfunction. Pandysautonomia typically has a subacute onset and is more severe, whereas the limited form is often milder, exhibiting one of just a few of these symptoms. 

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

Test Description

This serum antineural antibody panel test can be used for the evaluation of patients with idiopathic dysautonomia symptoms, or to investigate idiopathic autonomic symptoms and differentiate autoimmune dysautonomia from the effects of chemotherapy.

Testing for individual autoantibodies is also available separately.

Antibodies Tested and Methodology

Autoimmune Dysautonomia Panel, Serum (3006203) Antibodies Tested
Autoantibody Markers Methodology Individual Autoantibody Test Code

ANNA-1 (Hu)

IFA, reflex IB, reflex titer

2007961

CASPR2 Ab, IgG

CBA-IFA, reflex titer

2009452

CV2 (CRMP-5) Ab, IgG

CBA-IFA, reflex titer

3016999

DPPX Ab, IgG

CBA-IFA, reflex titer

3004359

Ganglionic AChR Ab, IgG

RIA

3003020

LGI1 Ab, IgG

CBA-IFA, reflex titer

2009456

Ab, antibody; AChR, acetylcholine receptor; ANNA-1, antineuronal nuclear antibody type 1; CASPR2, contactin-associated protein 2; CBA, cell-binding assay/cell-based assay; CRMP-5, collapsin response-mediator protein 5; DPPX, dipeptidyl-aminopeptidase-like protein 6; IB, immunoblot; IFA, indirect immunofluorescence assay; IgG, immunoglobulin G; LGI1, leucine-rich, glioma-inactivated protein 1; RIA, radioimmunoassay

Reflex Pattern

Autoimmune Dysautonomia Panel, Serum (3006203): Reflex Pattern

Reflex pattern for Autoimmune Dysautonomia Panel, Serum

Limitations

This panel does not include every antibody that has been associated with autoimmune dysautonomia:

  • PCCA-2 is not included because it is extremely rare (present in approximately 0.0001% of specimens submitted for evaluation using a paraneoplastic antibody panel),  and commercial assays to confirm the specificity of this antibody are not currently available.
  • Adaptor protein 3, subunit B2 (AP3B2) antibody is not included because it has been only recently identified and has been reported in <0.002% of samples screened. 
  • 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

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

Autoimmune Dysautonomia Panel, Serum (3006203) Results Interpretation
Result Interpretation

Positive for ≥1 autoantibodies

Autoantibody(ies) detected

May support a clinical diagnosis of autoimmune dysautonomia

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

Negative

No autoantibodies detected

A diagnosis of autoimmune dysautonomia is not excluded

References