Test Code #

B11

CPT Code(s) #

88346 (x # of biopsies), 88350 (x # of immune stains)

Test Name

IF mapping for Hereditary Epidermolysis Bullosa

If Profile, Includes Tests:

N/A

Disease Name:

Hereditary Epidermolysis Bullosa (EB), Inherited Epidermolysis Bullosa (EB), EB Simplex, Junctional EB, Dystrophic EB

Type of Study:

Biopsy Studies: Skin & Mucosa

Methodology:

Direct Immunofluorescence

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Substrate:

N/A

Reference Range:

Type VII Collagen, Type IV Collagen, Keratin 14, Laminin 332, Plectin, Alpha 6 integrin, Beta 4 integrin, Type XVII Collagen. If needed, additional tests may be done. Detailed interpretation accompanies report

Units:

N/A

Schedule:

Report availability is within 3-4 days from the time of specimen receipt.

Specimen Requirements:

A skin biopsy of an induced microvesicle on normal skin is recommended. Normal appearing skin preferably upper inner arm just above the elbow should be selected for inducing a lesion. The yellow capped tubes provided with Beutner collection kits contain a holding solution for IF mapping. If these tubes are unavailable, submit specimen in Zeus/Michel’s fixative. Transport at room temperature.

Sample Stability:

Stable in appropriate solution at room temperature for 5 days.

Clinical Relevance:

Immunofluorescent (IF) mapping of a skin biopsy taken after inducing a microvesicle on normal skin is recommended as a primary diagnostic test for inherited EB. Reactions of antigens along the clefts helps in differentiating EB simplex, junctional EB and dystrophic EB by localizing the plane of cleavage above or below the lamina densa or in the epidermis. The absence of reactions or weak reactions with specific antibodies can point to defective proteins associated with certain forms of inherited EB.