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Test Code RSBV Rare Subepithelial Autoimmune Blistering Disease Variants, Serum


Specimen Required


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.


Useful For

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

Indirect Immunofluorescence

Reporting Name

Rare Subepi Blistering Variants, S

Specimen Type

Serum

Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time
Serum Refrigerated (preferred) 14 days
  Frozen  30 days
  Ambient  14 days

Reference Values

Normal patients: Negative

Interpretation

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.

Clinical Reference

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

Day(s) Performed

Varies

Report Available

1 to 7 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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.

CPT Code Information

86255

LOINC Code Information

Test ID Test Order Name Order LOINC Value
RSBV Rare Subepi Blistering Variants, S 106521-8

 

Result ID Test Result Name Result LOINC Value
621392 Laminin 332 106532-5
621393 p200 106533-3
621394 Collagen VII 106534-1
621404 Other 77202-0