Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Serum - Mayo Clinic Laboratories (2023)


Ordering Guidance


Multiple neuroimmunology profile tests are available. For testing that is performed with each profile, 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 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 children with autoimmune central nervous system disorders using serum specimens

Profile Information

Test IDReporting NameAvailable SeparatelyAlways Performed
PCSIPeds Autoimmune CNS Interp, SNoYes
ANN1SAnti-Neuronal Nuclear Ab, Type 1NoYes
CS2CSCASPR2-IgG CBA, SNoYes
DPPISDPPX Ab IFA, SNoYes
GABCSGABA-B-R Ab CBA, SNoYes
GD65SGAD65 Ab Assay, SYesYes
GFAISGFAP IFA, SNoYes
LG1CSLGI1-IgG CBA, SNoYes
GL1ISmGluR1 Ab IFA, SNoYes
MOGFSMOG FACS, SYesYes
NMDCSNMDA-R Ab CBA, SNoYes
NMOFSNMO/AQP4 FACS, SYesYes
PCATRPurkinje Cell Cytoplasmic Ab Type TrNoYes

Reflex Tests

Test IDReporting NameAvailable SeparatelyAlways Performed
AGN1SAnti-Glial Nuclear Ab, Type 1NoNo
AGNBSAGNA-1 Immunoblot, SNoNo
AMIBSAmphiphysin Immunoblot, SNoNo
AMPCSAMPA-R Ab CBA, SNoNo
AMPHSAmphiphysin Ab, SNoNo
AMPISAMPA-R Ab IF Titer Assay, SNoNo
AN1BSANNA-1 Immunoblot, SNoNo
AN2BSANNA-2 Immunoblot, SNoNo
ANN2SAnti-Neuronal Nuclear Ab, Type 2NoNo
ANN3SAnti-Neuronal Nuclear Ab, Type 3NoNo
DPPCSDPPX Ab CBA, SNoNo
DPPTSDPPX Ab IFA Titer, SNoNo
GFACSGFAP CBA, SNoNo
GFATSGFAP IFA Titer, SNoNo
GL1CSmGluR1 Ab CBA, SNoNo
GL1TSmGluR1 Ab IFA Titer, SNoNo
MOGTSMOG FACS Titer, SNoNo
NMDISNMDA-R Ab IF Titer Assay, SNoNo
NMOTSNMO/AQP4 FACS Titer, SNoNo
PC1BSPCA-1 Immunoblot, SNoNo
PCAB2Purkinje Cell Cytoplasmic Ab Type 2NoNo
PCABPPurkinje Cell Cytoplasmic Ab Type 1NoNo
PCTBSPCA-Tr Immunoblot, SNoNo
(Video) Autoimmune encephalopathy evaluation: Why be comprehensive?

Testing Algorithm

If indirect immunofluorescence assay (IFA) patterns suggest antineuronal nuclear antibodies (ANNA)-1, then ANNA-1 immunoblot and ANNA-2 immunoblot are performed at an additional charge.

If IFA patterns suggest ANNA-2 antibody, then ANNA-2 immunoblot, ANNA-1 immunoblot, and ANNA-2 antibody IFA are performed at an additional charge.

If IFA patterns suggest ANNA-3 antibody, then ANNA-3 IFA is performed at an additional charge.

If IFA patterns suggest Purkinje cytoplasmic antibody (PCA)-1 antibody, then PCA-1 immunoblot and PCA-1 IFA are performed at an additional charge.

If IFA patterns suggest PCA-2 antibody, then PCA-2 IFA is performed at an additional charge.

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

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

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

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

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

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

If IFA pattern suggests metabotropic glutamate receptor 1 (mGluR1) antibody, then mGluR1antibody CBA and mGluR1 IFA titer are performed at an additional charge.

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

If neuromyelitis optica/aquaporin-4-IgG (NMO/AQP4-IgG) fluorescence-activated cell sorting (FACS) screen assay requires further investigation, then NMO/AQP4-IgG FACS titration assay is performed at an additional charge.

If myelin oligodendrocyte glycoprotein (MOG) FACS screen assay requires further investigation, then MOG FACS titration assay is performed at an additional charge.

For more information, see the following:

(Video) Encephalopathy Autoimmune Evaluation

Pediatric Autoimmune Encephalopathy Central Nervous System Disorders Evaluation Algorithm Serum

Pediatric Autoimmune Central Nervous System Demyelinating Disease Diagnostic Algorithm

Method Name

AMPCS, CS2CS, DPPCS, GABCS, GFACS, GL1CS, LG1CS, NMDCS: Cell-Binding Assay (CBA)

MOGFS, MOGTS, NMOFS, NMOTS: Flow Cytometry

AMPHS, AGN1S, AMPIS, ANN1S, ANN2S, ANN3S, DPPIS, DPPTS, GFAIS, GFATS, GL1IS, GL1TS, NMDIS, PCAB2, PCABP, PCATR: Indirect Immunofluorescence (IFA)

GD65S: Radioimmunoassay (RIA)

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

Reporting Name

Peds Autoimm Enceph CNS, S

Specimen Type

Serum

Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen TypeTemperatureTimeSpecial Container
SerumRefrigerated (preferred)28 days
Frozen28 days
Ambient72 hours

Clinical Information

Autoimmune encephalitis and myelitis is increasingly recognized as a cause of central nervous system disease in children and adolescents. N-methyl-D-aspartate receptor antibody (NMDA-R) encephalitis and myelin oligodendrocyte glycoprotein (MOG) autoimmunity are most common, though other entities, including aquaporin-4 autoimmunity, contactin-associated protein-like 2 (CASPR2) autoimmunity, autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy, and paraneoplastic encephalomyelopathies, may also occur in children.

(Video) Evaluating Autoimmune Encephalopathies, Dementias, and Epilepsies [Hot Topic]

Reference Values

Test ID

Reporting name

Methodology*

Reference value

PCSI

Peds Autoimmune CNS Interp, S

Medical interpretation

NA

ANN1S

ANNA-1, S

IFA

<1:240**

CS2CS

CASPR2-IgG CBA, S

CBA

Negative

DPPIS

DPPX Ab IFA, S

IFA

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

LG1CS

LGI1-IgG CBA, S

CBA

Negative

GL1IS

mGluR1 Ab IFA, S

IFA

Negative

MOGFS

MOG FACS, S

FACS

Negative

NMDCS

NMDA-R Ab CBA, S

CBA

Negative

NMOFS

NMO/AQP4 FACS, S

FACS

Negative

PCATR

PCA-Tr, S

IFA

<1:240**

Reflex Information:

Test ID

Reporting name

Methodology

Reference value

AGN1S

Anti-Glial Nuclear Ab, Type 1

IFA

<1:240

AGNBS

AGNA-1 Immunoblot, S

IB

Negative

AMIBS

Amphiphysin Immunoblot, s

IB

Negative

AMPCS

AMPA-R Ab CBA, S

CBA

Negative

AMPHS

Amphiphysin Ab, S

IFA

<1:240

AMPIS

AMPA-R Ab IF Titer Assay, S

IFA

<1:120

AN1BS

ANNA-1 Immunoblot, S

IB

Negative

AN2BS

ANNA-2 Immunoblot, S

IB

Negative

ANN2S

ANNA-2, S

IFA

<1:240**

ANN3S

ANNA-3, S

IFA

<1:240

DPPCS

DPPX Ab CBA, S

CBA

Negative

DPPTS

DPPX Ab IFA Titer, S

IFA

<1:240

GFACS

GFAP CBA, S

CBA

Negative

GFATS

GFAP IFA Titer, S

IFA

<1:240

GL1CS

mGluR1 Ab CBA, S

CBA

Negative

GL1TS

mGluR1 Ab IFA Titer, S

IFA

<1:240

MOGTS

MOG FACS Titer, S

FACS

<1:20

NMDIS

NMDA-R Ab IF Titer Assay, S

IFA

<1:120

NMOTS

NMO/AQP4 FACS Titer, S

FACS

<1:5

PC1BS

PCA-1 Immunoblot, S

IB

Negative

PCAB2

PCA-2, S

IFA

<1:240**

PCABP

PCA-1, S

IFA

<1:240**

PCTBS

PCA-Tr Immunoblot, S

IB

Negative

*Methodology abbreviations:

Immunofluorescence assay (IFA)

Cell-binding assay (CBA)

Fluorescence activated cell sorting assay (FACS)

Radioimmunoassay (RIA)

Immunoblot (IB)

**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 non-neuronal elements may be reported as "uninterpretable."

Interpretation

This profile is consistent with an autoimmune central nervous system disorder.

Clinical Reference

1. Dubey D, Pittock SJ, Krecke KN, et al: Clinical, radiologic, and prognostic features of myelitis associated with myelin oligodendrocyte glycoprotein autoantibody. JAMA Neurol. 2019 Mar 1;76(3):301-309. doi: 10.1001/jamaneurol.2018.4053

2. McKeon A, Lennon VA, Lotze T, et al: CNS aquaporin-4 autoimmunity in children. Neurology. 2008 Jul 8;71(2):93-100

3. Dubey D, Hinson SR, Jolliffe EA, et al: Autoimmune GFAP astrocytopathy: Prospective evaluation of 90 patients in 1 year. J Neuroimmunol. 2018 Aug 15;321:157-163. doi: 10.1016/j.jneuroim.2018.04.016

4. Philipps G, Alisanski SB, Pranzatelli M, Clardy SL, Lennon VA, McKeon A: Purkinje cell cytoplasmic antibody type 1 (anti-Yo) autoimmunity in a child with Down syndrome. JAMA Neurol. 2014 Mar;71(3):347-349

5. Lopez-Chiriboga AS, Klein C, Zekeridou A, et al: LGI1 and CASPR2 neurological autoimmunity in children. Ann Neurol. 2018 Sep;84(3):473-480. doi: 10.1002/ana.25310

(Video) Autoimmune Encephalitis Diagnosis and Misdiagnosis

6. Lopez-Chiriboga AS, Majed M, Fryer J, et al: Association of MOG-IgG serostatus with relapse after acute disseminated encephalomyelitis and proposed diagnostic criteria for MOG-IgG-associated disorders. JAMA Neurol. 2018 Nov 1;75(11):1355-1363. doi: 10.1001/jamaneurol.2018.1814

7. Clardy SL, Lennon VA, Dalmau J: Childhood onset of stiff-man syndrome. JAMA Neurol. 2013 Dec;70(12):1531-1536. doi: 10.1001/jamaneurol.2013.4442

8. Banwell B, Tenembaum S, Lennon VA, et al: Neuromyelitis optica-IgG in childhood inflammatory demyelinating CNS disorders. Neurology. 2008 Jan 29;70(5):344-352. doi: 10.1212/01.wnl.0000284600.80782.d5

Day(s) Performed

Profile tests: Monday through Sunday; Reflex tests: Varies

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 US Food and Drug Administration.

CPT Code Information

86341

86255 x9

86053

86363

LOINC Code Information

Test IDTest Order NameOrder LOINC Value
PCDESPeds Autoimm Enceph CNS, S101417-4
Result IDTest Result NameResult LOINC Value
61516NMDA-R Ab CBA, S93503-1
61519GABA-B-R Ab CBA, S93428-1
605131Peds Autoimmune CNS Interp, S69048-7
80150ANNA-1, S94342-3
81596GAD65 Ab Assay, S94345-6
83076PCA-Tr, S94352-2
38324NMO/AQP4 FACS, S43638-6
64279LGI1-IgG CBA, S94287-0
64281CASPR2-IgG CBA, S94285-4
65563MOG FACS, S90248-6
64930DPPX Ab IFA, S82976-2
64928mGluR1 Ab IFA, S94347-2
605155GFAP IFA, S94346-4
36349Reflex Added77202-0

Forms

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

(Video) Epilepsy Autoimmune Evaluation

Videos

1. Antibody Prevalence in Epilepsy and Encephalopathy (APE2) Score
(Mayo Clinic Laboratories)
2. Autoimmune neurological disease research: Mayo Clinic Radio
(Mayo Clinic)
3. Advancements in autoimmune neurology: Dr. Andrew McKeon
(Mayo Clinic Laboratories)
4. Autoimmune Movement Disorders
(Mayo Clinic Laboratories)
5. Autoimmune Epilepsy – Mayo Clinic
(Mayo Clinic)
6. Neuroimmunology: Updates and antibody test utilization
(Mayo Clinic Laboratories)
Top Articles
Latest Posts
Article information

Author: Arielle Torp

Last Updated: 01/29/2023

Views: 5740

Rating: 4 / 5 (61 voted)

Reviews: 84% of readers found this page helpful

Author information

Name: Arielle Torp

Birthday: 1997-09-20

Address: 87313 Erdman Vista, North Dustinborough, WA 37563

Phone: +97216742823598

Job: Central Technology Officer

Hobby: Taekwondo, Macrame, Foreign language learning, Kite flying, Cooking, Skiing, Computer programming

Introduction: My name is Arielle Torp, I am a comfortable, kind, zealous, lovely, jolly, colorful, adventurous person who loves writing and wants to share my knowledge and understanding with you.