Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Serum - Mayo Clinic Laboratories

Ordering Guidance

Multiple neurological phenotype-specific autoimmune/paraneoplastic evaluations are available. For more information as well as phenotype-specific testing options, refer to Autoimmune Neurology Test Ordering Guide.

When more than one evaluation is ordered on the same order number the duplicate will be canceled.

For a list of antibodies performed with each evaluation, see Autoimmune Neurology Antibody Matrix.

This test should not be requested for 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.

Necessary Information

Provide the following information:

-Relevant clinical information

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

Specimen Required

Patient Preparation: For optimal antibody detection, specimen collection is recommended before initiation of immunosuppressant medication or intravenous immunoglobulin treatment.

Supplies: Sarstedt Aliquot Tube 5 mL (T914)

Collection Container/Tube:

Preferred: Red top

Acceptable: Serum gel

Submission Container/Tube: Plastic vial

Specimen Volume: 4 mL

Collection Instructions: Centrifuge and aliquot serum into a plastic vial.

Forms

If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.

Useful For

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

Profile Information

Test ID	Reporting Name	Available Separately	Always Performed
MDSI	Movement Disorder Interp, S	No	Yes
AMPCS	AMPA-R Ab CBA, 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
APBIS	AP3B2 IFA, S	No	Yes
CS2CS	CASPR2-IgG CBA, S	No	Yes
CRMWS	CRMP-5-IgG Western Blot, S	Yes	Yes
DPPCS	DPPX Ab CBA, S	No	Yes
GABCS	GABA-B-R Ab CBA, S	No	Yes
GD65S	GAD65 Ab Assay, S	Yes	Yes
GFAIS	GFAP IFA, S	No	Yes
GRFIS	GRAF1 IFA, S	No	Yes
IG5CS	IgLON5 CBA, 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
NCDIS	Neurochondrin 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	No	Yes
PCAB2	Purkinje Cell Cytoplasmic Ab Type 2	No	Yes
PCATR	Purkinje Cell Cytoplasmic Ab Type Tr	No	Yes
PDEIS	PDE10A Ab IFA, S	No	Yes
SP5IS	Septin-5 IFA, S	No	Yes
SP7IS	Septin-7 IFA, S	No	Yes
T46IS	TRIM46 Ab IFA, S	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
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
DPPTS	DPPX Ab IFA Titer, 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
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
AGNTS	AGNA-1 Titer, S	No	No
AN1TS	ANNA-1 Titer, S	No	No
AN2TS	ANNA-2 Titer, S	No	No
AN3TS	ANNA-3 Titer, S	No	No
APBCS	AP3B2 CBA, S	No	No
APBTS	AP3B2 IFA Titer, S	No	No
APHTS	Amphiphysin Ab Titer, S	No	No
CRMTS	CRMP-5-IgG Titer, S	No	No
GFACS	GFAP CBA, S	No	No
GFATS	GFAP IFA Titer, S	No	No
NCDCS	Neurochondrin CBA, S	No	No
NCDTS	Neurochondrin IFA Titer, S	No	No
PC1TS	PCA-1 Titer, S	No	No
PC2TS	PCA-2 Titer, S	No	No
PCTTS	PCA-Tr Titer, S	No	No
SP5CS	Septin-5 CBA, S	No	No
SP5TS	Septin-5 IFA Titer, S	No	No
SP7CS	Septin-7 CBA, S	No	No
SP7TS	Septin-7 IFA Titer, S	No	No
PDETS	PDE10A Ab IFA Titer, S	No	No
T46CS	TRIM46 Ab CBA, S	No	No
T46TS	TRIM46 Ab IFA Titer, S	No	No

Testing Algorithm

If the immunofluorescence assay (IFA) patterns suggest amphiphysin antibody, then the amphiphysin immunoblot and amphiphysin titer will be performed at an additional charge.

If the IFA pattern suggests antiglial nuclear antibody-1 (AGNA)-1, then the AGNA-1 immunoblot and AGNA-1 titer will be performed at an additional charge.

If the IFA pattern suggests antineuronal nuclear antibody type 1 (ANNA-1), then the ANNA-1 immunoblot, ANNA-1 titer, and ANNA-2 immunoblot will be performed at an additional charge.

If the IFA pattern suggests ANNA-2 antibody, then the ANNA-2 immunoblot, ANNA-2 titer, and ANNA-1 immunoblot will be performed at an additional charge.

If the client requests or the IFA pattern suggests ANNA-3 antibodies, then the ANNA-3 titer will be performed at an additional charge.

If the IFA pattern suggests adaptor protein 3 beta 2 (AP3B2) antibodies, then the AP3B2 cell-binding assay (CBA) and AP3B2 titer will be performed at an additional charge.

If the collapsin response-mediator protein-5 (CRMP-5)-IgG Western blot is positive, then the CRMP-5-IgG IFA titer will be performed at an additional charge.

If the IFA pattern suggests Purkinje cytoplasmic antibody type 1 (PCA-1), then the PCA-1 IB and PCA-1 titer will be performed at an additional charge.

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

If the IFA pattern suggests PCA-Tr antibody, then the PCA-Tr IB and PCA-Tr titer will be performed at an additional charge.

If the IgLON5 antibody CBA result is positive, then IgLON5 antibody IFA titer will be performed at an additional charge.

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

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

If the IFA pattern suggests alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA)-receptor antibody, then the AMPA-receptor antibody IFA titer will be performed at an additional charge.

If the dipeptidyl-peptidase-like protein-6 antibody (DPPX) antibody CBA result is positive, then the DPPX antibody IFA titer will be performed at an additional charge.

If the gamma-aminobutyric acid B (GABA-B)-receptor CBA result is positive, then the GABA-B-receptor antibody IFA titer will be performed at an additional charge.

If the IFA pattern suggests glial fibrillary acidic protein (GFAP) antibody, then the GFAP antibody CBA and GFAP antibody IFA titer will be performed at an additional charge.

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

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

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

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

If the IFA pattern suggests neurochondrin antibody, then the neurochondrin antibody CBA and neurochondrin titer will be performed at an additional charge.

If the IFA pattern suggests septin-5 antibody, then the septin-5 CBA and septin-5 titer will be performed at an additional charge.

If the IFA pattern suggests septin-7 antibody, then the septin-7 CBA and septin-7 titer are performed at an additional charge.

If the IFA pattern suggests tripartite motif-containing protein 46 (TRIM46) antibody, then the TRIM46 antibody CBA and TRIM46 IFA titer will be performed at an additional charge.

If the IFA pattern suggests phosphodiesterase 10A (PDE10A) antibody, then the PDE10A antibody IFA titer will be performed at an additional charge.

For more information see:

Autoimmune/Paraneoplastic Movement Disorder Evaluation Algorithm-Serum

Central Nervous System Demyelinating Disease Diagnostic Algorithm

Method Name

GRFIS, GRFTS, K11TS, AGN1S, AGNTS, AMPIS, AMPHS, APHTS, ANN1S, AN1TS, ANN2S, AN2TS, ANN3S, AN3TS, APBIS, APBTS, CRMTS, DPPTS, GABIS, GFAIS, GFATS, IG5TS, ITPIS, ITPTS, GL1IS, GL1TS, NCDIS, NCDTS, NIFIS, NIFTS, NMDIS, PCABP, PC1TS, PCAB2, PC2TS, PCATR, PCTTS, PDEIS, PDETS, SP7IS, SP7TS, SP5IS, SP5TS, T46IS, T46TS: Indirect Immunofluorescence Assay (IFA)

GRFCS, K11CS, AMPCS, APBCS, CS2CS, DPPCS, GABCS, GFACS, IG5CS, ITPCS, LG1CS, GL1CS, NCDCS, AINCS, NFLCS, NFHCS, NMDCS, SP7CS, SP5CS, T46CS: Cell Binding Assay (CBA)

CRMWS: Western Blot (WB)

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

CCPQ, GD65S: Radioimmunoassay (RIA)

MDSI: Medical interpretation

Reporting Name

Movement, Autoimm/Paraneo, S

Specimen Type

Serum

Specimen Minimum Volume

3 mL

Specimen Stability Information

Specimen Type	Temperature	Time
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 type 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 65-kDa 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	Interpretive report
AMPCS	AMPA-R Ab CBA, S	CBA	Negative
AMPHS	Amphiphysin Ab, S	IFA	Negative
AGN1S	Anti-Glial Nuclear Ab, Type 1	IFA	Negative
ANN1S	Anti-Neuronal Nuclear Ab, Type 1	IFA	Negative
ANN2S	Anti-Neuronal Nuclear Ab, Type 2	IFA	Negative
ANN3S	Anti-Neuronal Nuclear Ab, Type 3	IFA	Negative
APBIS	AP3B2 IFA, S	IFA	Negative
CS2CS	CASPR2-IgG CBA, S	CBA	Negative
CRMWS	CRMP-5-IgG Western Blot, S	WB	Negative
DPPCS	DPPX Ab CBA, S	CBA	Negative
GABCS	GABA-B-R Ab CBA, S	CBA	Negative
GD65S	GAD65 Ab Assay, S	RIA	≤0.02 nmol/L Reference values apply to all ages.
GFAIS	GFAP IFA, S	IFA	Negative
GRFIS	GRAF1 IFA, S	IFA	Negative
IG5CS	IgLON5 CBA, S	CBA	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
NCDIS	Neurochondrin 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	Negative
PCAB2	Purkinje Cell Cytoplasmic Ab Type 2	IFA	Negative
PCATR	Purkinje Cell Cytoplasmic Ab Type Tr	IFA	Negative
PDEIS	PDE10A Ab IFA, S	IFA	Negative
SP5IS	Septin-5 IFA, S	IFA	Negative
SP7IS	Septin-7 IFA, S	IFA	Negative
T46IS	TRIM46 Ab IFA, S	IFA	Negative

Reflex Information:

Test ID	Reporting Name	Methodology*	Reference Value
AGNBS	AGNA-1 Immunoblot, S	IB	Negative
AGNTS	AGNA-1 Titer, S	IFA	<1:240
AINCS	Alpha Internexin CBA, S	CBA	Negative
AMPIS	AMPA-R Ab IF Titer Assay, S	IFA	<1:240
AMIBS	Amphiphysin Immunoblot, S	IB	Negative
AN1BS	ANNA-1 Immunoblot, S	IB	Negative
AN1TS	ANNA-1 Titer, S	IFA	<1:240
AN2BS	ANNA-2 Immunoblot, S	IB	Negative
AN2TS	ANNA-2 Titer, S	IFA	<1:240
AN3TS	ANNA-3 Titer, S	IFA	<1:240
APBCS	AP3B2 CBA, S	CBA	Negative
APBTS	AP3B2 IFA Titer, S	IFA	<1:240
APHTS	Amphiphysin Ab Titer, S	IFA	<1:240
CRMTS	CRMP-5-IgG Titer, S	IFA	<1:240
DPPTS	DPPX Ab IFA Titer, S	IFA	<1:240
GABIS	GABA-B-R Ab IF Titer Assay, S	IFA	<1:240
GFACS	GFAP CBA, S	CBA	Negative
GFATS	GFAP IFA Titer, S	IFA	<1:240
GRFCS	GRAF1 CBA, S	CBA	Negative
GRFTS	GRAF1 IFA Titer, S	IFA	<1:240
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
NCDCS	Neurochondrin CBA, S	CBA	Negative
NCDTS	Neurochondrin 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	<1:240
PC1BS	PCA-1 Immunoblot, S	IB	Negative
PC1TS	PCA-1 Titer, S	IFA	<1:240
PC2TS	PCA-2 Titer, S	IFA	<1:240
PCTBS	PCA-Tr Immunoblot, S	IB	Negative
PCTTS	PCA-Tr Titer, S	IFA	<1:240
PDETS	PDE10A Ab IFA Titer, S	IFA	<1:240
SP5CS	Septin-5 CBA, S	CBA	Negative
SP5TS	Septin-5 IFA Titer, S	IFA	<1:240
SP7CS	Septin-7 CBA, S	CBA	Negative
SP7TS	Septin-7 IFA Titer, S	IFA	<1:240
T46CS	TRIM46 Ab CBA, S	CBA	Negative
T46TS	TRIM46 Ab IFA Titer, S	IFA	<1:240

*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, ANNA-3, 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;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;77(11):1420-1429. doi:10.1001/jamaneurol.2020.2231

Day(s) Performed

Profile tests: Monday through Sunday; Reflex tests: Varies

Report Available

8 to 12 days

CPT Code Information

86596

86255 x 26

84182

86341

0432U

84182 AGNBS (if appropriate)

86256 AGNTS (if appropriate)

86255 AINCS (if appropriate)

84182 AMIBS (if appropriate)

86256 AMPIS (if appropriate)

84182 AN1BS (if appropriate)

86256 AN1TS (if appropriate)

84182 AN2BS (if appropriate)

86256 AN2TS (if appropriate)

86256 AN3TS (if appropriate)

86255 APBCS (if appropriate)

86256 APBTS (if appropriate)

86256 APHTS (if appropriate)

86256 CRMTS (if appropriate)

86256 DPPTS (if appropriate)

86256 GABIS (if appropriate)

86255 GFACS (if appropriate)

86256 GFATS (if appropriate)

86255 GL1CS (if appropriate)

86256 GL1TS (if appropriate)

86255 GRFCS (if appropriate)

86256 GRFTS (if appropriate)

86256 IG5TS (if appropriate)

86255 ITPCS (if appropriate)

86256 ITPTS (if appropriate)

86256 K11TS (if appropriate)

86255 NCDCS (if appropriate)

86256 NCDTS (if appropriate)

86255 NFHCS (if appropriate)

86255 NFLCS (if appropriate)

86256 NIFTS (if appropriate)

86256 NMDIS (if appropriate)

84182 PC1BS (if appropriate)

86256 PC1TS (if appropriate)

86256 PC2TS (if appropriate)

84182 PCTBS (if appropriate)

86256 PCTTS (if appropriate)

86256 PDETS (if appropriate)

86255 SP5CS (if appropriate)

86256 SP5TS (if appropriate)

86255 SP7CS (if appropriate)

86256 SP7TS (if appropriate)

86255 T46CS (if appropriate)

86256 T46TS (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
61518	AMPA-R Ab CBA, S	93489-3
61519	GABA-B-R Ab CBA, S	93428-1
606950	IgLON5 CBA, S	96478-3
610581	KLHL11 Ab CBA, S	99072-1
615867	Neurochondrin IFA, S	101452-1
615871	Septin-5 IFA, S	101460-4
615875	Septin-7 IFA, S	101465-3
615863	AP3B2 IFA, S	101907-4
616445	TRIM46 Ab IFA, S	103843-9
620068	PDE10A Ab IFA, S	103842-1
605155	GFAP IFA, S	94346-4
606952	ITPR1 IFA, S	96464-3
606964	NIF IFA, S	96486-6
606958	GRAF1 IFA, S	96471-8
64279	LGI1-IgG CBA, S	94287-0
64281	CASPR2-IgG CBA, S	94285-4
64933	DPPX Ab CBA, S	94676-4
64928	mGluR1 Ab IFA, S	94347-2
601998	Movement Disorder Interp, S	69048-7
89080	AGNA-1, S	84927-3
81722	Amphiphysin Ab, S	72327-0
80150	ANNA-1, S	33615-6
80776	ANNA-2, S	43187-4
83137	ANNA-3, S	43102-3
81185	P/Q-Type Calcium Channel Ab	94349-8
83107	CRMP-5-IgG Western Blot, S	47401-5
81596	GAD65 Ab Assay, S	30347-9
83138	PCA-2, S	84925-7
9477	PCA-1, S	84924-0
83076	PCA-Tr, S	84926-5
618903	IFA Notes	48767-8

Special Instructions

Test Classification

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

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