Test Catalog

Test Id : GLYCC

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Glycine Receptor Alpha1 IgG, Cell Binding Assay, Spinal Fluid

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Overview

Test Catalog

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

Evaluating patients with suspected autoimmune stiff-person spectrum disorders (stiff-person syndrome, stiff-limb, stiff trunk, or progressive encephalomyelitis with rigidity and myoclonus [PERM]) using spinal fluids specimens

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

Live Cell-Binding Assay (LCBA)

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

Glycine Alpha1 LCBA, CSF

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

Glycine

GlyR

alpha 1 subunit

GlyRa1

GLRA1

Specimen Type
Describes the specimen type validated for testing

CSF

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

Container/Tube: Sterile vial

Specimen Volume: 2 mL

Forms

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

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.

1 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
CSF 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 autoimmune stiff-person spectrum disorders (stiff-person syndrome, stiff-limb, stiff trunk, or progressive encephalomyelitis with rigidity and myoclonus [PERM]) using spinal fluids specimens

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

Inhibitory synaptic transmission is mediated by gamma-aminobutyric acid-ergic (GABA-ergic) and glycinergic spinal interneurons, which regulate motor neuron excitability in the brainstem and spinal cord. Autoimmune central nervous system disorders include classic stiff-man syndrome (also known as stiff-person syndrome), limited stiff-man forms (eg, stiff-limb syndrome) and a severe (and sometimes fatal) encephalomyelitic variant known as progressive encephalomyelitis with rigidity and myoclonus (PERM). These disorders are unified clinically by exaggerated startle, stiffness, and spasms of the axis and/or limbs. Characteristic electrophysiologic findings include continuous motor unit activity by unipolar electromyographic (EMG) recording, and exaggerated and non-habituating acoustic startle responses. Eighty percent of patients are seropositive for antibody targeting the 65 kDa isoform of glutamic acid decarboxylase (GAD65).

 

The alpha-1-subunit of the glycine receptor (GlyRa1), which is enriched in brainstem and spinal cord, has emerged as an antigenic target with specificity for the autoimmune stiff-person spectrum, and is particularly useful for diagnostics among patients seronegative for GAD65-IgG. GlyRa1-IgG has been described among patients with PERM (33%), classic stiff-man syndrome (9%), and limited stiff-man forms (17%). Seropositivity for GlyRa1-IgG is detected in 19% of patients from the stiff-man spectrum who are GAD65-IgG seronegative. The clinical context is usually non-paraneoplastic, though thymoma and lymphomas have been occasionally described. Disease-specific antibodies may be detected in serum only, CSF only, or both. Improvements with immunotherapy (steroids, plasma exchange or intravenous immune globulin) occur more commonly in GlyRa1-IgG seropositive patients than among patients seropositive for GAD65 antibody only. In one series, improvement was noted in 6/7 GlyRa1-IgG antibody positive patients compared with only 7/25 without these antibodies.

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.

Negative

Interpretation
Provides information to assist in interpretation of the test results

In the appropriate clinical context, this profile is consistent with a stiff-person syndrome spectrum disorder (classical stiff-person, stiff-limb, or progressive encephalomyelitis with rigidity and myoclonus [PERM]). A paraneoplastic cause should be considered.

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

Negative results do not exclude autoimmune stiff-person spectrum or cancer.

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

1. Hutchinson M, Waters P, McHugh J, et al: Progressive encephalomyelitis, rigidity, and myoclonus: a novel glycine receptor antibody. Neurology. 2008;71:1291-1292

2. McKeon A, Martinez-Hernandez E, Lancaster E, et al: Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype. JAMA Neurol. 2013;70:44-50

3. Carvajal-Gonzalez A, Leite MI, Waters P, et al: Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes. Brain. 2014;137:2178-2192

4. Martinez-Hernandez E, Arino H, McKeon A, et al: Clinical and immunologic investigations in patients with stiff-person spectrum disorder. JAMA Neurol. 2016;73:714-720

5. Hinson SR, Lopez-Chiriboga AS, Bower JH, et al: Glycine receptor modulating antibody predicting treatable stiff-person spectrum disorders. Neurol Neuroimmunol Neuroinflamm. 2018; 5:e438

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

This assay utilizes the T-REx System (Thermo Fisher). Expression of the glycine receptor alpha-1-subunit is repressed in the absence of tetracycline or doxycycline and induced in the presence of tetracycline or doxycycline.(Yao F, Svensjo T, Winkler T, Eriksson C, Eriksson E: Tetracycline repressor, tetR, rather than the tetR-mammalian cell transcription factor fusion derivatives, regulates inducible gene expression in mammalian cells. Hum Gene Ther. 1998 Sep;9[13]:1939-1950)

 

HEK293 cells stably expressing the tetracycline repressor and stably transfected with a plasmid encoding the alpha-1-subunit of the glycine receptor, under control of doxycycline, are grown in wells of a chamber slide. Twenty four hours prior to the assay, the wells on the bottom half of the slide are treated with culture media including doxycycline. After 24 hours, patient CSF and/or serum will be added to the living HEK293 cells held on ice. Bound IgG will be detected using a fluorophore conjugated anti-human IgG secondary antibody. Patient samples with IgG specific for the glycine receptor will be positive on doxycycline-treated cells and negative on cells not treated with doxycycline.(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.

Thursday

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.

5 to 10 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.

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  • Prospective clients should contact their account representative. 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. It 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.

0431U

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
GLYCC Glycine Alpha1 LCBA, CSF 96497-3
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.
606973 Glycine Alpha1 LCBA, CSF 96497-3

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