Test Catalog

Test Id : RSBV

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Rare Subepithelial Autoimmune Blistering Disease Variants, Serum

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Overview

Test Catalog

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

Aiding in the diagnosis of rare subepithelial autoimmune blistering diseases, including anti-laminin 332 pemphigoid, anti-p200 pemphigoid, epidermolysis bullosa acquisita, and systemic bullous lupus erythematosus

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

Indirect Immunofluorescence

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

Rare Subepi Blistering Variants, S

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

Mucous membrane pemphigoid

P200 pemphigoid

Laminin gamma-1 pemphigoid

Laminin 332 pemphigoid

Anti-epiligrin pemphigoid

Laminin 5 pemphigoid

Ocular pemphigoid

Cicatricial pemphigoid

Dermal-pattern pemphigoid

Bullous lupus erythematosus

Epidermolysis bullosa acquisita

Specimen Type
Describes the specimen type validated for testing

Serum

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

Supplies: Sarstedt Aliquot Tube, 5 mL (T914)

Collection Container/Tube:

Preferred: Serum gel

Acceptable: Red top

Submission Container/Tube: Plastic vial

Specimen Volume: 2 mL

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

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

0.5 mL

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

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

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) 14 days
Frozen 30 days
Ambient 14 days

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

Aiding in the diagnosis of rare subepithelial autoimmune blistering diseases, including anti-laminin 332 pemphigoid, anti-p200 pemphigoid, epidermolysis bullosa acquisita, and systemic bullous lupus erythematosus

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

Laminin 332 (LM332) pemphigoid is a rare subepithelial autoimmune blistering disease that can affect the conjunctival, esophageal, oral, and genital mucosa and skin. With LM332 pemphigoid, there is a risk of blindness and esophageal stricture, among other serious complications. In addition, approximately 20% to 30% of patients with LM332 pemphigoid have an underlying malignancy driving their mucocutaneous disease. Therefore, it is generally accepted that patients found to have circulating LM332 antibodies should be screened for an occult malignancy.

 

P200 pemphigoid, a rare subepithelial autoimmune blistering disease affecting the skin, shares some clinical characteristics with psoriasis, a much more common inflammatory dermatosis of the skin. However, identification of circulating p200 autoantibodies predicts the development of blisters and portends a worse clinical therapeutic response.

 

Collagen VII autoantibodies are pathogenic in two rare subepithelial autoimmune blistering diseases: epidermolysis bullosa acquisita (EBA) and bullous systemic lupus erythematosus (BSLE). A diagnosis of EBA is confirmed upon identification of circulating autoantibodies to collagen VII and predicts a refractory treatment course. In addition, patients with EBA have a high rate of associated inflammatory bowel disease (IBD), so identification of collagen VII autoantibodies may prompt clinicians to increase surveillance for IBD. In the appropriate clinical context, circulating autoantibodies to collagen VII may support a diagnosis of BSLE. Accurate identification of BSLE is important, as most patients with this condition have severe manifestations of lupus in other organs, such as lupus nephritis. While our immunodermatology laboratory offers another test to detect collagen VII autoantibodies (COL7 / Anti-Collagen type VII, IgG antibodies, Serum), collagen VII is a large protein, rendering autoantibodies against this target immunologically heterogeneous.

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.

Normal patients: Negative

Interpretation
Provides information to assist in interpretation of the test results

This test panel is comprised of cell-based assays to detect antibodies directed against laminin-332, p200, or collagen VII. This panel's intended in vitro use is as an aid in the diagnosis of rare subepithelial autoimmune blistering diseases, including anti-laminin 332 pemphigoid, anti-p200 pemphigoid, epidermolysis bullosa acquisita, and systemic bullous lupus erythematosus.

 

A positive test result for laminin-332 antibodies may correlate with a diagnosis of laminin-332 pemphigoid in the appropriate clinical setting. Laminin-332 pemphigoid is associated with a higher rate of associated malignancy and ocular mucosal disease than conventional pemphigoid.

 

A positive test result for p200 antibodies may correlate with a diagnosis of p200 pemphigoid in the appropriate clinical setting. P200 pemphigoid can be associated with a more recalcitrant disease course than conventional pemphigoid and may be associated with psoriasis.

 

A positive test result for collagen VII antibodies may correlate with a diagnosis of epidermolysis bullosa acquisita (EBA) or bullous systemic lupus erythematosus (BSLE) in the appropriate clinical setting. EBA can be associated with inflammatory bowel disease and a more recalcitrant disease course in some patients. BSLE is usually associated with systemic lupus erythematosus.

 

Recommend correlation with clinical presentation, histopathologic findings from standard biopsy, direct immunofluorescence from a perilesional biopsy (CIB / Cutaneous Direct Immunofluorescence Assay, Varies), indirect immunofluorescence with IgG (CIFS / Cutaneous Immunofluorescence Antibodies, IgG, Serum), and other testing as clinically indicated.

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

Results should be interpreted in conjunction with clinical information, histopathologic pattern observed on skin biopsy, results of direct immunofluorescence from a perilesional biopsy, results of indirect immunofluorescence with salt-split skin and esophageal substrates, and other testing as clinically indicated.

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

1. Goletz S, Probst C, Komorowski L, et al. A sensitive and specific assay for the serological diagnosis of antilaminin 332 mucous membrane pemphigoid. Br J Dermatol. 2019;180(1):149-156

2. Amber KT, Bloom R, Hertl M. A systematic review with pooled analysis of clinical presentation and immunodiagnostic testing in mucous membrane pemphigoid: association of anti-laminin-332 IgG with oropharyngeal involvement and the usefulness of ELISA. J Eur Acad Dermatol Venereol. 2016;30(1):72-77. doi:10.1111/jdv.13397

3. Ahmed AR, Kalesinskas M, Kooper-Johnson S. Paraneoplastic autoimmune Laminin-332 syndrome (PALS): Anti-Laminin-332 mucous membrane pemphigoid as a prototype. Autoimmun Rev. 2023;22(10):103444. doi:10.1016/j.autrev.2023.103444

4. Seta V, Aucouturier F, Bonnefoy J, et al. Comparison of 3 type VII collagen (C7) assays for serologic diagnosis of epidermolysis bullosa acquisita (EBA). J Am Acad Dermatol. 2016;74(6):1166-1172. doi:10.1016/j.jaad.2016.01.005

5. Kridin K, Kneiber D, Kowalski EH, Valdebran M, Amber KT. Epidermolysis bullosa acquisita: A comprehensive review. Autoimmun Rev. 2019 Aug;18(8):786-795. doi: 10.1016/j.autrev.2019.06.007

6. Holtsche MM Goletz S, von Georg A, et al. Serologic characterization of anti-p200 pemphigoid: Epitope spreading as a common phenomenon. J Am Acad Dermatol. 2021;84(4):1155-1157

7. Lau I, Goletz S, Holtsche MM, et al. Anti-p200 pemphigoid is the most common pemphigoid disease with serum antibodies against the dermal side by indirect immunofluorescence microscopy on human salt-split skin. J Am Acad Dermatol. 2019;81(5):1195-1197

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

Biochip slides with transfected cells are overlaid with dilutions of patient’s serum, incubated, covered with fluorescein-conjugated IgG+IgG4 antiserum, and interpreted with a fluorescence microscope.(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.

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.

1 to 7 days

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

30 days

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

Rochester

Fees
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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.

86255

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
RSBV Rare Subepi Blistering Variants, S In Process
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.
621392 Laminin 332 In Process
621393 p200 In Process
621394 Collagen VII In Process
621404 Other 77202-0

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 | PHP Pdf | CMS 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