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Test ID: GID2 Autoimmune Gastrointestinal Dysmotility Evaluation, Serum


Necessary Information


Provide the following information:

-Relevant clinical information

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



Specimen Required


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.

3. Patient should have no general anesthetic or muscle-relaxant drugs in the previous 24 hours.

Container/Tube:

Preferred: Serum gel

Acceptable: Red top

Specimen Volume: 4 mL


Useful For

Investigating unexplained weight loss, early satiety, anorexia, nausea, vomiting, constipation or diarrhea in a patient with past or family history of cancer or autoimmunity

 

Directing a focused search for cancer

 

Investigating gastrointestinal symptoms that appear in the course or wake of cancer therapy, not explainable by recurrent cancer, metastasis or therapy; detection of autoantibodies on this profile helps differentiate autoimmune gastrointestinal dysmotility from the effects of chemotherapy

 

Detecting early evidence of cancer recurrence in previously seropositive patients who have a rising titer of 1 or more autoantibodies

Profile Information

Test ID Reporting Name Available Separately Always Performed
AGIDI GI Dysmotility, Interpretation, S No Yes
GANG AChR Ganglionic Neuronal Ab, S No Yes
ANN1S Anti-Neuronal Nuclear Ab, Type 1 No Yes
CS2CS CASPR2-IgG CBA, S No Yes
CRMS CRMP-5-IgG, S No Yes
DPPIS DPPX Ab IFA, S No Yes
LG1CS LGI1-IgG CBA, S No Yes
PCAB2 Purkinje Cell Cytoplasmic Ab Type 2 No Yes

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
AMPCS AMPA-R Ab CBA, S No No
AMPIS AMPA-R Ab IF Titer Assay, S No No
AMPHS Amphiphysin Ab, S No No
AMIBS Amphiphysin Immunoblot, S No No
AN1BS ANNA-1 Immunoblot, S No No
AN2BS ANNA-2 Immunoblot, S No No
CRMWS CRMP-5-IgG Western Blot, S Yes No
DPPCS DPPX Ab CBA, S No No
DPPTS DPPX Ab IFA Titer, S No No
GABCS GABA-B-R Ab CBA, S No No
GABIS GABA-B-R Ab IF Titer Assay, S No No
NMDCS NMDA-R Ab CBA, S No No
NMDIS NMDA-R Ab IF Titer Assay, S No No
PC1BS PCA-1 Immunoblot, S No No
PCTBS PCA-Tr Immunoblot, S No No
PCABP Purkinje Cell Cytoplasmic Ab Type 1 No No
PCATR Purkinje Cell Cytoplasmic Ab Type Tr No No

Testing Algorithm

If immunofluorescence assay (IFA) patterns suggest collapsin response-mediator protein-5-IgG (CRMP-5-IgG), then CRMP-5-IgG Western blot is performed at an additional charge.

 

If IFA patterns suggest amphiphysin antibody, then amphiphysin titer and/or amphiphysin immunoblot is performed at an additional charge.

 

If IFA pattern suggests antineuronal nuclear antibody (ANNA)-1, then ANNA-1 immunoblot and ANNA-2 immunoblot is performed at an additional charge.

 

If IFA pattern suggests Purkinje cytoplasmic antibody (PCA)-1, then PCA-1 IFA and immunoblot is performed at an additional charge.

 

If IFA pattern suggests PCA-2 antibody, then PCA-2 IFA performed at an additional charge.

 

If IFA pattern suggests PCA-Tr antibody, then PCA-Tr IFA and immunoblot is performed at an additional charge.

 

If IFA pattern suggests N-methyl-D-aspartate (NMDA)-receptor, then NMDA- receptor cell-binding assay (CBA) and NMDA-R titer are performed at an additional charge.

 

If IFA pattern suggests alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA)-receptor then AMPA-receptor CBA and AMPA-receptor titer are performed at an additional charge.

 

If IFA pattern suggests gamma-aminobutyric acid B (GABA-B)-receptor, then GABA-B-receptor CBA and GABA-B-receptor titer are performed at an additional charge.

 

If IFA pattern suggests dipeptidyl-peptidase-like protein-6 antibody (DPPX) antibody, then DPPX CBA and DPPX titer are performed at an additional charge.

 

See Autoimmune Gastrointestinal Dysmotility Evaluation Algorithm in Special Instructions.

Method Name

AMPHS, AMPIS, ANN1S, CRMS, DPPIS, DPPTS, GABIS, NMDIS, PCAB2, PCABP, PCATR: Indirect Immunofluorescence Assay (IFA)

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

CRMWS: Western Blot (WB)

AMIBS, AN1BS, AN2BS, PC1BS, PCTBS: Immunoblot (IB)

GANG: Radioimmunoassay (RIA)

Reporting Name

Autoimmune GI Dysmotility Eval, S

Specimen Type

Serum

Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Serum Refrigerated (preferred) 28 days
  Frozen  28 days
  Ambient  72 hours

Clinical Information

Autoimmune gastrointestinal dysmotility (AGID) is a limited form of dysautonomia (also known as autoimmune autonomic ganglionopathy or neuropathy) that is sometimes a paraneoplastic disorder. Neoplasms most commonly found are lung cancer, thymoma, and miscellaneous adenocarcinomas. Diagnosis is confirmed by objective abnormalities on gastrointestinal (GI) motility studies (eg, gastric, small intestinal or colonic nuclear transit studies; esophageal, gastroduodenal, or colonic manometry or anorectal manometry with balloon expulsion). These disorders target autonomic postganglionic synaptic membranes and in some cases ganglionic neurons and autonomic nerve fibers, and may be accompanied by sensory small fiber neuropathy. Onset may be subacute or insidious. There may be additional manifestations of dysautonomia (eg, impaired pupillary light reflex, anhidrosis, orthostatic hypotension, sicca manifestations, and bladder dysfunction) or signs of other neurologic impairment. Autonomic reflex testing and a thermoregulatory sweat test are valuable aids in documentation of objective abnormalities.

 

The serological profile of AGID may include autoantibodies specific for onconeural proteins found in the nucleus, cytoplasm, or plasma membrane of neurons or muscle. Some of these autoantibodies are highly predictive of an underlying cancer. A commonly encountered autoantibody marker of AGID is the ganglionic neuronal alpha-3- acetylcholine receptor (alpha-3-AChR) autoantibody. The pathogenicity of this autoantibody was demonstrated in rabbits immunized with a recombinant extracellular fragment of the alpha-3-AChR subunit, and in mice injected with IgG from high-titered alpha-3-AChR autoantibody-positive rabbit or human sera. A direct relationship between antibody titer and severity of dysautonomia occurs in both experimental animals and patients. Patients with high alpha-3-AChR autoantibody values (>1.0 nmol/L) generally present with profound pandysautonomia, and those with lower alpha-3-AChR autoantibody values may have limited autoimmune dysautonomia or other neurological signs and symptoms.

 

Importantly, cancer is detected in 30% of patients with alpha-3-AChR autoantibody. Cancer risk factors include the patient's past or family history of cancer, history of smoking, or social and environmental exposure to carcinogens. Early diagnosis and treatment of the neoplasm favors less morbidity from the GI dysmotility disorder. The cancers recognized most commonly with alpha-3-AChR autoantibody include adenocarcinomas of breast, lung, prostate, and GI tract, or lymphoma. A specific neoplasm is often predictable when a patient's autoantibody profile includes other autoantibodies to onconeural proteins shared by neurons, glia, or muscle. Small-cell lung carcinoma is found in 80% of antineuronal nuclear antibody-type 1 (ANNA-1; anti-Hu)-positive patients and 23% of ANNA-1-positive patients have GI dysmotility. The most common GI manifestation is gastroparesis, but the most dramatic is pseudoobstruction.

Reference Values

Test ID

Reporting Name

Methodology

Reference Value

AGIDI

GI Dysmotility, Interpretation, S

Medical Interpretation

NA

GANG

AChR Ganglionic Neuronal Ab, S

Radioimmunoassay (RIA)

≤0.02 nmol/L

ANN1S

Anti-Neuronal Nuclear Ab, Type 1

Immunofluorescence assay (IFA)

<1:240

CS2CS

CASPR2-IgG CBA, S

Cell-binding assay (CBA)

Negative

CRMS

CRMP-5-IgG, S

IFA

<1:240

DPPIS

DPPX Ab IFA, S

IFA

 Negative

LG1CS

LGI1-IgG CBA, S

CBA

Negative

PCAB2

Purkinje Cell Cytoplasmic Ab Type 2

IFA

<1:240

 

Reflex Information:

Test ID

Reporting Name

Methodology

Reference Value

AMPCS

AMPA-R Ab CBA, S

CBA

Negative

AMPIS

AMPA-R Ab IF Titer Assay, S

IFA

<1:120

AMPHS

Amphiphysin Ab, S

IFA

<1:240

AMIBS

Amphiphysin Immunoblot, S

Immunoblot (IB)

Negative

AN1BS

ANNA-1 Immunoblot, S

IB

Negative

AN2BS

ANNA-2 Immunoblot, S

IB

Negative

CRMWS

CRMP-5-IgG Western Blot, S

Western Blot (WB)

Negative

DPPCS

DPPX Ab CBA, S

CBA

Negative

DPPTS

DPPX Ab IFA Titer, S

IFA

<1:240

GABCS

GABA-B-R Ab CBA, S

CBA

Negative

GABIS

GABA-B-R Ab IF Titer Assay, S

IFA

<1:120

NMDCS

NMDA-R Ab CBA, S

CBA

Negative

NMDIS

NMDA-R Ab IF Titer Assay, S

IFA

<1:120

PC1BS

PCA-1 Immunoblot, S

IB

Negative

PCTBS

PCA-Tr Immunoblot, S

IB

Negative

PCABP

Purkinje Cell Cytoplasmic Ab Type 1

IFA

<1:240

PCATR

Purkinje Cell Cytoplasmic Ab Type Tr

IFA

<1:240

 

Neuron-restricted patterns of IgG staining that do not fulfill criteria for ANNA-1, ANNA-2, PCA-1, PCA-2, or PCA-Tr may be reported as "unclassified anti-neuronal IgG." Complex patterns that include nonneuronal elements may be reported as "uninterpretable."

 

CRMP-5 titers lower than 1:240 are detectable by recombinant CRMP-5 Western blot analysis. CRMP-5 Western blot analysis will be done on request on stored serum (held 4 weeks). This supplemental testing is recommended in cases of chorea, vision loss, cranial neuropathy, and myelopathy. Call 1-800-533-1710 to request CRMP-5 Western blot.

Interpretation

Antibodies directed at onconeural proteins shared by neurons, muscle, and certain cancers are valuable serological markers of a patient's immune response to cancer. They are not found in healthy subjects and are usually accompanied by subacute symptoms and signs. It is not uncommon for more than one antibody to be detected. Three classes of antibodies are recognized (the individual antibodies from each class included in the profile are denoted in parentheses):

-Antineuronal nuclear autoantibody-type 1

-Neuronal and muscle cytoplasmic (collapsin response-mediator protein-5)

-Plasma membrane cation channel (neuronal ganglionic alpha-3-acetylcholine receptor).

 

All of these autoantibodies are potential effectors of autoimmune gastrointestinal dysmotility.

Clinical Reference

1. Lennon VA, Sas DF, Busk MF, et al: Enteric neuronal autoantibodies in pseudo-obstruction with small cell lung carcinoma. Gastroenterology. 1991 Jan;100(1):137-142

2. Lucchinetti CF, Kimmel DW, Lennon VA: Paraneoplastic and oncological profiles of patients seropositive for type 1 anti-neuronal nuclear autoantibodies. Neurology. 1998 March;50:652-657

3. Vernino S, Adamski J, Kryzer TJ, Fealey RD, Lennon VA: Neuronal nicotinic ACh receptor antibody in subacute autonomic neuropathy and cancer-related syndromes. Neurology. 1998;50:1806-1813

4. Vernino S, Low PA, Fealey RD, Stewart JD, Farrugia G, Lennon VA: Autoantibodies to ganglionic acetylcholine receptors in autoimmune autonomic neuropathies. N Engl J Med. 2000;343:847-855

5. Dhamija R, Tan KM, Pittock SJ, Foxx-Orenstein A, Benarroch A, Lennon VA: Serological profiles aiding the diagnosis of autoimmune gastrointestinal dysmotility. Clin Gastroenterol Hepatol. 2008;6:988-992

6. McKeon A, Lennon VA, Lachance DH, Fealey RD, Pittock SJ: The ganglionic acetylcholine receptor autoantibody: oncological, neurological and serological accompaniments. Arch Neurol. 2009;66(6):735-741

7. Kraichely RE, Farrugia G, Castell DO, Castell DO, Lennon VA: Neural autoantibody profile of primary achalasia. Dig Dis Sci. 2010 Feb;55(2):307-311

Day(s) Performed

AMPHS, AMPIS, ANN1S, CRMS, DPPIS, DPPTS, GABIS, GANG, NMDIS, PCAB2, PCABP, PCATR:

Monday through Sunday

 

AMPCS, CS2CS, DPPCS, GABCS, LG1CS, NMDCS:

Monday through Friday, Sunday

 

CRMWS:

Monday through Thursday

 

AMIBS, AN1BS, AN2BS, PC1BS, PCTBS:

Monday through Friday

Report Available

10 to 13 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

83519

86255 x 6

86255-AMPCS (if appropriate)

86256-AMPIS (if appropriate)

86255-AMPHS (if appropriate)

84182-AMIBS (if appropriate)

84182-AN1BS (if appropriate)

84182-AN2BS (if appropriate)

84182-CRMWS (if appropriate)

86255-DPPCS (if appropriate)

86256-DPPTS (if appropriate)

86255-GABCS (if appropriate)

86256-GABIS (if appropriate)

86255-NMDCS (if appropriate)

86256-NMDIS (if appropriate)

84182-PC1BS (if appropriate)

84182-PCTBS (if appropriate)

86255-PCABP (if appropriate)

86255-PCATR (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GID2 Autoimmune GI Dysmotility Eval, S 97557-3

 

Result ID Test Result Name Result LOINC Value
34269 GI Dysmotility, Interpretation, S 69048-7
64279 LGI1-IgG CBA, S 94287-0
64281 CASPR2-IgG CBA, S 94285-4
64930 DPPX Ab IFA, S 82976-2
80150 ANNA-1, S 94342-3
83077 CRMP-5-IgG, S 94815-8
84321 AChR Ganglionic Neuronal Ab, S 94694-7
83138 PCA-2, S 94351-4
36349 Reflex Added 77202-0

Forms

If not ordering electronically, complete, print, and send a Gastroenterology and Hepatology Client Test Request (T728) with the specimen.