Test Catalog

Test Id : MDS2

Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Serum

Useful For
Suggests clinical disorders or settings where the test may be helpful

Evaluating patients with suspected paraneoplastic or other autoimmune movement disorders including patients with ataxia, brainstem encephalitis, chorea, dyskinesias, myoclonus, and parkinsonism in serum specimens

Profile Information
A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.

Test Id Reporting Name Available Separately Always Performed
MDSI Movement Disorder Interp, S No Yes
AMPHS Amphiphysin Ab, S No Yes
AGN1S Anti-Glial Nuclear Ab, Type 1 No Yes
ANN1S Anti-Neuronal Nuclear Ab, Type 1 No Yes
ANN2S Anti-Neuronal Nuclear Ab, Type 2 No Yes
ANN3S Anti-Neuronal Nuclear Ab, Type 3 No Yes
CS2CS CASPR2-IgG CBA, S No Yes
CRMS CRMP-5-IgG, S No Yes
CRMWS CRMP-5-IgG Western Blot, S Yes Yes
DPPIS DPPX Ab IFA, S No Yes
GD65S GAD65 Ab Assay, S Yes Yes
GRFIS GRAF1 IFA, S No Yes
IG5IS IgLON5 IFA, S No Yes
ITPIS ITPR1 IFA, S No Yes
K11CS KLHL11 Ab CBA, S Yes Yes
LG1CS LGI1-IgG CBA, S No Yes
GL1IS mGluR1 Ab IFA, S No Yes
NIFIS NIF IFA, S No Yes
NMDCS NMDA-R Ab CBA, S No Yes
CCPQ P/Q-Type Calcium Channel Ab No Yes
PCABP Purkinje Cell Cytoplasmic Ab Type 1 Yes Yes
PCAB2 Purkinje Cell Cytoplasmic Ab Type 2 Yes Yes
PCATR Purkinje Cell Cytoplasmic Ab Type Tr No Yes

Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test Id Reporting Name Available Separately Always Performed
AGNBS AGNA-1 Immunoblot, S No No
AINCS Alpha Internexin CBA, S No No
AMPCS AMPA-R Ab CBA, S No No
AMPIS AMPA-R Ab IF Titer Assay, S No No
AMIBS Amphiphysin Immunoblot, S No No
AN1BS ANNA-1 Immunoblot, S No No
AN2BS ANNA-2 Immunoblot, S No 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
GRFCS GRAF1 CBA, S No No
GRFTS GRAF1 IFA Titer, S No No
IG5CS IgLON5 CBA, S No No
IG5TS IgLON5 IFA Titer, S No No
ITPCS ITPR1 CBA, S No No
ITPTS ITPR1 IFA Titer, S No No
GL1CS mGluR1 Ab CBA, S No No
GL1TS mGluR1 Ab IFA Titer, S No No
NFHCS NIF Heavy Chain CBA, S No No
NIFTS NIF IFA Titer, S No No
NFLCS NIF Light Chain 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
K11TS KLHL11 Ab IFA Titer, S No No

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

If immunofluorescence assay (IFA) pattern suggests amphiphysin antibody, then amphiphysin immunoblot is performed at an additional charge.

 

If IFA pattern suggests antiglial nuclear antibody-1 (AGNA)-1, then AGNA-1 immunoblot is performed at an additional charge.

 

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

 

If IFA pattern suggests ANNA-2 antibody, then ANNA-2 immunoblot is performed at an additional charge.

 

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

 

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

 

If IFA pattern suggests IgLON5 antibody, then IgLON5 cell-binding assay (CBA) and IgLON5 antibody IFA titer are performed at an additional charge.

 

If IFA pattern suggests GTPase regulator associated with focal adhesion kinase-1 (GRAF1) antibody, then GRAF1 CBA and GRAF1 antibody IFA titer are performed at an additional charge.

 

If IFA pattern suggests inositol 1,4,5-trisphosphate receptor (ITPR1) antibody, then ITPR1 CBA and ITPR1 antibody IFA titer are performed at an additional charge.

 

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

 

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

 

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

 

If IFA pattern suggests metabotropic glutamate receptor 1 (mGluR1) antibody, then mGluR1 CBA and mGluR1 antibody IFA titer are performed at an additional charge.

 

If IFA pattern suggests N-methyl-D-aspartate (NMDA)-receptor antibody and NMDA-receptor CBA is positive, then NMDA-receptor antibody IFA titer is performed at an additional charge.

 

If IFA pattern suggests neuronal intermediate filament (NIF) antibody, then alpha internexin CBA, NIF heavy chain CBA, NIF light chain CBA, and NIF antibody IFA titer are performed at an additional charge.

 

If Kelch-like protein 11 (KLHL11) CBA is reactive, then KLHL11 antibody IFA titer is performed at an additional charge.

 

For more information see Movement Disorder Autoimmune Evaluation Algorithm-Serum.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

AGN1S, AMPHS, AMPIS, ANN1S, ANN2S, ANN3S, CRMS, DPPIS, DPPTS, GABIS, GL1IS, GL1TS, GRFIS, GRFTS, IG5IS, IG5TS, ITPIS, ITPTS, K11TS, NIFIS, NIFTS, NMDIS, PCAB2, PCABP, PCATR: Indirect Immunofluorescence Assay (IFA)

 

AINCS, AMPCS, CS2CS, DPPCS, GABCS, GL1CS, GRFCS, IG5CS, ITPCS, K11CS, LG1CS, NFHCS, NFLCS, NMDCS: Cell Binding Assay (CBA)

 

CRMWS: Western Blot (WB)

 

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

 

CCPQ, GD65S: Radioimmunoassay (RIA)

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Movement, Autoimm/Paraneo, S

Aliases
Lists additional common names for a test, as an aid in searching

Ataxia

Chorea

Dyskinesias

Myoclonus

Parkinsonism

PERM

Brainstem encephalitis

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

If immunofluorescence assay (IFA) pattern suggests amphiphysin antibody, then amphiphysin immunoblot is performed at an additional charge.

 

If IFA pattern suggests antiglial nuclear antibody-1 (AGNA)-1, then AGNA-1 immunoblot is performed at an additional charge.

 

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

 

If IFA pattern suggests ANNA-2 antibody, then ANNA-2 immunoblot is performed at an additional charge.

 

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

 

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

 

If IFA pattern suggests IgLON5 antibody, then IgLON5 cell-binding assay (CBA) and IgLON5 antibody IFA titer are performed at an additional charge.

 

If IFA pattern suggests GTPase regulator associated with focal adhesion kinase-1 (GRAF1) antibody, then GRAF1 CBA and GRAF1 antibody IFA titer are performed at an additional charge.

 

If IFA pattern suggests inositol 1,4,5-trisphosphate receptor (ITPR1) antibody, then ITPR1 CBA and ITPR1 antibody IFA titer are performed at an additional charge.

 

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

 

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

 

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

 

If IFA pattern suggests metabotropic glutamate receptor 1 (mGluR1) antibody, then mGluR1 CBA and mGluR1 antibody IFA titer are performed at an additional charge.

 

If IFA pattern suggests N-methyl-D-aspartate (NMDA)-receptor antibody and NMDA-receptor CBA is positive, then NMDA-receptor antibody IFA titer is performed at an additional charge.

 

If IFA pattern suggests neuronal intermediate filament (NIF) antibody, then alpha internexin CBA, NIF heavy chain CBA, NIF light chain CBA, and NIF antibody IFA titer are performed at an additional charge.

 

If Kelch-like protein 11 (KLHL11) CBA is reactive, then KLHL11 antibody IFA titer is performed at an additional charge.

 

For more information see Movement Disorder Autoimmune Evaluation Algorithm-Serum.

Specimen Type
Describes the specimen type validated for testing

Serum

Ordering Guidance

Necessary Information

Provide the following information:

-Relevant clinical information

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

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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.

 

Collection Container/Tube:

Preferred: Red top

Acceptable: Serum gel

Submission Container/Tube: Plastic vial

Specimen Volume: 4 mL

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

3 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis Reject
Gross lipemia Reject
Gross icterus Reject

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

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

Useful For
Suggests clinical disorders or settings where the test may be helpful

Evaluating patients with suspected paraneoplastic or other autoimmune movement disorders including patients with ataxia, brainstem encephalitis, chorea, dyskinesias, myoclonus, and parkinsonism in serum specimens

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

If immunofluorescence assay (IFA) pattern suggests amphiphysin antibody, then amphiphysin immunoblot is performed at an additional charge.

 

If IFA pattern suggests antiglial nuclear antibody-1 (AGNA)-1, then AGNA-1 immunoblot is performed at an additional charge.

 

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

 

If IFA pattern suggests ANNA-2 antibody, then ANNA-2 immunoblot is performed at an additional charge.

 

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

 

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

 

If IFA pattern suggests IgLON5 antibody, then IgLON5 cell-binding assay (CBA) and IgLON5 antibody IFA titer are performed at an additional charge.

 

If IFA pattern suggests GTPase regulator associated with focal adhesion kinase-1 (GRAF1) antibody, then GRAF1 CBA and GRAF1 antibody IFA titer are performed at an additional charge.

 

If IFA pattern suggests inositol 1,4,5-trisphosphate receptor (ITPR1) antibody, then ITPR1 CBA and ITPR1 antibody IFA titer are performed at an additional charge.

 

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

 

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

 

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

 

If IFA pattern suggests metabotropic glutamate receptor 1 (mGluR1) antibody, then mGluR1 CBA and mGluR1 antibody IFA titer are performed at an additional charge.

 

If IFA pattern suggests N-methyl-D-aspartate (NMDA)-receptor antibody and NMDA-receptor CBA is positive, then NMDA-receptor antibody IFA titer is performed at an additional charge.

 

If IFA pattern suggests neuronal intermediate filament (NIF) antibody, then alpha internexin CBA, NIF heavy chain CBA, NIF light chain CBA, and NIF antibody IFA titer are performed at an additional charge.

 

If Kelch-like protein 11 (KLHL11) CBA is reactive, then KLHL11 antibody IFA titer is performed at an additional charge.

 

For more information see Movement Disorder Autoimmune Evaluation Algorithm-Serum.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Autoimmune movement disorders encapsulate a large and diverse group of neurologic disorders occurring either in isolation or accompanying more diffuse autoimmune encephalitic illnesses.

 

The full range of movement phenomena has been described and, as they often occur in adults, many of the presentations can mimic neurodegenerative disorders, such as autoimmune chorea mimicking Huntington disease. Disorders may be ataxic, hypokinetic (parkinsonism), or hyperkinetic (myoclonus, chorea other dyskinetic disorders). Associated disorders may fall under the rubric of brainstem encephalitis.

 

The autoantibody targets are diverse and include neuronal surface proteins such as leucine-rich, glioma-inactivated 1 (LGI1), as well as antibodies reactive with intracellular antigens (such as Purkinje cell cytoplasmic antibody-1[PCA-1]) that are markers of a central nervous system process mediated by CD8+ cytotoxic T cells.

 

In some instances (such as PCA-1 autoimmunity), antibodies detected in serum and cerebrospinal fluid can be indicative of a paraneoplastic cause and may direct the cancer search. In other instances (such as 65kDa isoform of glutamic acid decarboxylase [GAD65] autoimmunity), a paraneoplastic cause is very unlikely, and early treatment with immunotherapy may promote improvement or recovery.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Test ID

Reporting Name

Methodology*

Reference Value

MDSI

Movement Disorder Interp, S

Medical interpretation

N/A

AMPHS

Amphiphysin Ab, S

IFA

<1:240

AGN1S

Anti-Glial Nuclear Ab, Type 1

IFA

<1:240

ANN1S

Anti-Neuronal Nuclear Ab, Type 1

IFA

<1:240

ANN2S

Anti-Neuronal Nuclear Ab, Type 2

IFA

<1:240

ANN3S

Anti-Neuronal Nuclear Ab, Type 3

IFA

<1:240

CS2CS

CASPR2-IgG CBA, S

CBA

Negative

CRMS

CRMP-5-IgG, S

IFA

<1:240

CRMWS

CRMP-5-IgG Western Blot, S

WB

Negative

DPPIS

DPPX Ab IFA, S

IFA

Negative

GD65S

GAD65 Ab Assay, S

RIA

< or =0.02 nmol/L

Reference values apply to all ages.

GRFIS

GRAF1 IFA, S

IFA

Negative

IG5IS

IgLON5 IFA, S

IFA

Negative

ITPIS

ITPR1 IFA, S

IFA

Negative

K11CS

KLHL11 Ab CBA, S

CBA

Negative

LG1CS

LGI1-IgG CBA, S

CBA

Negative

GL1IS

mGluR1 Ab IFA, S

IFA

Negative

NIFIS

NIF IFA, S

IFA

Negative

NMDCS

NMDA-R Ab CBA, S

CBA

Negative

CCPQ

P/Q-Type Calcium Channel Ab

RIA

< or =0.02 nmol/L

PCABP

Purkinje Cell Cytoplasmic Ab Type 1

IFA

<1:240

PCAB2

Purkinje Cell Cytoplasmic Ab Type 2

IFA

<1:240

PCATR

Purkinje Cell Cytoplasmic Ab Type Tr

IFA

<1:240

 

Reflex Information:

Test ID

Reporting Name

Methodology*

Reference Value

AGNBS

AGNA-1 Immunoblot, S

IB

Negative

AINCS

Alpha Internexin CBA, S

CBA

Negative

AMPIS

AMPA-R Ab IF Titer Assay, S

IFA

<1:120

AMPCS

AMPA-R Ab CBA, S

CBA

Negative

AMIBS

Amphiphysin Immunoblot, S

IB

Negative

AN1BS

ANNA-1 Immunoblot, S

IB

Negative

AN2BS

ANNA-2 Immunoblot, S

IB

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

GRFCS

GRAF1 CBA, S

CBA

Negative

GRFTS

GRAF1 IFA Titer, S

IFA

<1:240

IG5CS

IgLON5 CBA, S

CBA

Negative

IG5TS

IgLON5 IFA Titer, S

IFA

<1:240

ITPCS

ITPR1 CBA, S

CBA

Negative

ITPTS

ITPR1 IFA Titer, S

IFA

<1:240

K11TS

KLHL11 Ab IFA Titer, S

IFA

<1:240

GL1CS

mGluR1 Ab CBA, S

CBA

Negative

GL1TS

mGluR1 Ab IFA Titer, S

IFA

<1:240

NFHCS

NIF Heavy Chain CBA, S

CBA

Negative

NIFTS

NIF IFA Titer, S

IFA

<1:240

NFLCS

NIF Light Chain 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

 

*Methodology abbreviations:

Immunofluorescence assay (IFA)

Cell-binding assay (CBA)

Western blot (WB)

Radioimmunoassay (RIA)

Immunoblot (IB)

 

Neuron-restricted patterns of IgG staining that do not fulfill criteria for ANNA-1, ANNA-2, CRMP-5-IgG, 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."

Interpretation
Provides information to assist in interpretation of the test results

A positive antibody result is consistent with a diagnosis of an autoimmune movement disorder.

 

A search for cancer may be indicated, depending on the antibody profile.

 

A trial of immune therapy may bring about improvement in neurological symptoms.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

A negative antibody test result does not exclude an autoimmune movement disorder.

 

Corticosteroid treatment prior to the serum collection may cause a false-negative result.

 

Intravenous immunoglobulin (IVIg) treatment prior to the serum collection may cause a false-positive result.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Honorat JA, McKeon A: Autoimmune movement disorders: a clinical and laboratory approach. Curr Neurol Neurosci Rep. 2017 Jan;17(1):4. doi: 10.1007/s11910-017-0709-2

2. Dubey D, Wilson MR, Clarkson B, et al: Expanded clinical Phenotype, oncological associations, and immunopathologic insights of paraneoplastic Kelch-like protein-11 encephalitis. JAMA Neurol. 2020 Nov 1;77(11):1420-1429. doi: 10.1001/jamaneurol.2020.2231

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

Indirect Immunofluorescence Assay

The patient's sample is tested by a standardized indirect immunofluorescence assay (IFA) that uses a composite frozen section of mouse cerebellum, kidney, and gut tissues. After incubation with sample and washing, fluorescein-conjugated goat-antihuman IgG is applied. Neuron-specific autoantibodies are identified by their characteristic fluorescence staining patterns. Samples that are scored positive for any neuronal nuclear or cytoplasmic autoantibody are titrated to an endpoint. Interference by coexisting non-neuron-specific autoantibodies can usually be eliminated by serologic absorption.(Honorat JA, Komorowski L, Josephs KA, et al: IgLON5 antibody: neurological accompaniments and outcomes in 20 patients. Neruol Neruoimmunol Neruoinflamm. 2017 Jul 18;4(5):e385. doi: 10.1212/NXI.0000000000000385)

 

Radioimmunoassay

Duplicate aliquots of the patient specimen are incubated with (125)I-labeled antigen. Immune complexes, formed by adding secondary (goat) antihuman immunoglobulin, are pelleted by centrifugation and washed. Gamma emission from the washed pellet is counted, and mean counts per minute (cpm) are compared with results yielded by high positive and negative control sera. Specimen yielding cpm higher than the background cpm yielded by normal human specimens are retested to confirm positivity and titrated as necessary to obtain a value in the linear range of the assay. The antigen binding capacity (nmol per liter) is calculated from the cpm precipitated at a dilution yielding a linear range value.(Griesmann GE, Kryzer TJ, Lennon VA: Autoantibody profiles of myasthenia gravis and Lambert-Eaton myasthenic syndrome. In: Rose NR, Hamilton RG, et al, eds. Manual of Clinical and Laboratory Immunology. 6th ed. ASM Press; 2002:1005-1012; Jones AL, Flanagan EP, Pittock SJ, et al: Responses to and outcomes of treatment of autoimmune cerebellar ataxia in adults. JAMA Neurol. 2015 Nov;72[11]:1304-1312. doi: 10.1001/jamaneurol.2015.2378)

 

Western Blot

Neuronal antigens extracted aqueously from adult rat cerebellum, full-length recombinant human collapsin response-mediator protein-5 (CRMP-5), or full-length recombinant human amphiphysin protein is denatured, reduced, and separated by electrophoresis on 10% polyacrylamide gel. IgG is detected autoradiographically by enhanced chemiluminescence.(Yu Z, Kryzer TJ, Griesmann GE, et al: CRMP-5 neuronal autoantibody: marker of lung cancer and thymoma-related autoimmunity. Ann Neurol. 2001 February;49[2]:146-154; Dubey D, Jitprapaikulsan J, Bi H, et al: Amphiphysin-IgG autoimmune neuropathy: A recognizable clinicopathologic syndrome. Neurology. 2019 Nov 12;93(20):e1873-e1880. doi: 10.1212/WNL.0000000000008472)

 

Immunoblot

All steps are performed at room temperature (18-28 degrees C) utilizing the EUROBlot One instrument. Diluted patient serum (1:101) is added to test strips (strips containing recombinant antigen manufactured and purified using biochemical methods) in individual channels and incubated for 30 minutes. Positive specimens will bind to the purified recombinant antigen and negative specimens will not bind. Strips are washed to remove unbound serum antibodies and then incubated with anti-human IgG antibodies (alkaline phosphatase-labelled) for 30 minutes. The strips are again washed to remove unbound anti-human IgG antibodies and nitroblue tetrazolium chloride/5-bromo-4-chloro-3-indolylphosphate substrate is added. Alkaline phosphatase enzyme converts the soluble substrate into a colored insoluble product on the membrane to produce a black band. Strips are digitized via picture capture on the EUROBlot One instrument and evaluated with the EUROLineScan software.(O'Connor K, Waters P, Komorowski L, et al: GABAA receptor autoimmunity: A multicenter experience. Neurol Neuroimmunol Neuroinflamm. 2019 Apr 4;6[3]:e552. doi: 10.1212/NXI.0000000000000552)

 

Cell-Binding Assay

Patient specimen is applied to a composite slide containing transfected and nontransfected HEK-293 cells. After incubation and washing, fluorescein-conjugated goat-antihuman IgG is applied to detect the presence of patient IgG binding.(Package insert: IIFT: Neurology Mosaics, Instructions for the indirect immunofluorescence test. EUROIMMUN; FA_112d-1_A_UK_C13, 02/2019)

 

Methodology for detecting Kelch-like protein 11 (KLHL11)-IgG uses an in-house developed cell binding assay (CBA) with confirmation by tissue IFA. The CBA utilizes HEK293 cells that are stably transfected with DNA encoding the KLHL11 protein that has been tagged with green fluorescent protein (GFP). Since KLHL11 is localized to cytoplasmic vesicles when ectopically expressed, cells will be fixed and permeabilized prior to exposure to patient sample. Patients that are positive for KLHL11-IgG will have human IgG bound to the transfected cells. Binding will colocalize with the GFP-tagged KLHL11 protein in cytoplasmic vesicles. Patient IgG will be detected using a tetramethylrhodamine conjugated anti-human secondary antibody. The negative samples will not bind to KLHL11-GFP in transfected cells. Performed in a 96 well plate format, the plates are scanned, and images saved using the ImageXpress Micro Confocal High-Content Imaging System (Molecular Devices). Images will be scored positive or negative.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Profile tests: Monday through Sunday; Reflex tests: Varies

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

10 to 13 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

28 days

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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 US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

86596

86255 x 19

84182

86341

84182-AGNBS (if appropriate)

86255-AINCS (if appropriate)

86255-AMPCS (if appropriate)

86256-AMPIS (if appropriate)

84182-AMIBS (if appropriate)

84182-AN1BS (if appropriate)

84182-AN2BS (if appropriate)

86255-DPPCS (if appropriate)

86256-DPPTS (if appropriate)

86255-GABCS (if appropriate)

86256-GABIS (if appropriate)

86255-GRFCS (if appropriate)

86256-GRFTS (if appropriate)

86255-IG5CS (if appropriate)

86256-IG5TS (if appropriate)

86255-ITPCS (if appropriate)

86256-ITPTS (if appropriate)

86256-K11TS (if appropriate)

86255-GL1CS (if appropriate)

86256-GL1TS (if appropriate)

86255-NFHCS (if appropriate)

86256-NIFTS (if appropriate)

86255-NFLCS (if appropriate)

86256-NMDIS (if appropriate)

84182-PC1BS (if appropriate)

84182-PCTBS (if appropriate)

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
MDS2 Movement, Autoimm/Paraneo, S 94701-0
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
89080 AGNA-1, S 94341-5
81722 Amphiphysin Ab, S 94340-7
80150 ANNA-1, S 94342-3
36349 Reflex Added 77202-0
80776 ANNA-2, S 94343-1
83137 ANNA-3, S 94344-9
81185 P/Q-Type Calcium Channel Ab 94349-8
83077 CRMP-5-IgG, S 94815-8
83107 CRMP-5-IgG Western Blot, S 47401-5
81596 GAD65 Ab Assay, S 94345-6
83138 PCA-2, S 94351-4
9477 PCA-1, S 94350-6
83076 PCA-Tr, S 94352-2
61516 NMDA-R Ab CBA, S 93503-1
64279 LGI1-IgG CBA, S 94287-0
64281 CASPR2-IgG CBA, S 94285-4
64930 DPPX Ab IFA, S 82976-2
64928 mGluR1 Ab IFA, S 94347-2
601998 Movement Disorder Interp, S 69048-7
606946 IgLON5 IFA, S 96476-7
606952 ITPR1 IFA, S 96464-3
606964 NIF IFA, S 96486-6
606958 GRAF1 IFA, S 96471-8
610581 KLHL11 Ab CBA, S 99072-1

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports