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Test ID: MDS2 Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Serum


Ordering Guidance


Multiple neuroimmunology profile tests are available. See Autoimmune Neurology Antibody Matrix.



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.

 

Collection Container/Tube:

Preferred: Red top

Acceptable: Serum gel

Submission Container/Tube: Plastic vial

Specimen Volume: 4 mL


Useful For

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

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

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

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.

Method Name

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)

Reporting Name

Movement, Autoimm/Paraneo, S

Specimen Type

Serum

Specimen Minimum Volume

3 mL

Specimen Stability Information

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

Clinical Information

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

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

≤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

≤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

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.

Clinical Reference

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

Day(s) Performed

Profile tests: Monday through Sunday; Reflex tests: Varies

Report Available

10 to 13 days

CPT Code Information

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 Code Information

Test ID Test Order Name Order LOINC Value
MDS2 Movement, Autoimm/Paraneo, S 94701-0

 

Result ID Test Result Name Result LOINC Value
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
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
89080 AGNA-1, S 94341-5
81722 Amphiphysin Ab, S 94340-7
80150 ANNA-1, S 94342-3
36349 Reflex Added 77202-0

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 US Food and Drug Administration.
Mayo Clinic Laboratories | Neurology Catalog Additional Information:

mml-Movement-Disorders