Alport (Collagen IV Alpha 5 and Alpha 2) Immunofluorescent Stain, Renal Biopsy
Use
Assisting in the diagnosis of hereditary nephritis (Alport syndrome). Alport syndrome is a hereditary disease of basement membrane collagen type IV. Variants in collagen IV alpha genes cause characteristic abnormal immunofluorescence staining patterns within the glomerular basement membrane. Alport syndrome is characterized by hematuria, proteinuria, progressive kidney failure, and high‑tone sensorineural hearing loss.
Special Instructions
Not provided.
Limitations
Approximately one‑third of patients with established hereditary nephritis based on typical ultrastructural findings and family history show loss of glomerular basement membrane or epidermal basement membrane staining for the alpha 5 chain of type IV collagen. Therefore, a normal staining pattern does not exclude the diagnosis of hereditary nephritis. Because alpha 3 and alpha 4 chains of type IV collagen are not expressed in the epidermal basement membranes, patients with autosomal hereditary nephritis have preserved staining for alpha 5 on epidermal basement membranes and, therefore, skin biopsy cannot exclude autosomal hereditary nephritis.
New York Approved
Methodology
Immunoassay (IHC)
Biomarkers
Collagen IV alpha 2
ProteinCollagen IV alpha 5
Protein
LOINC Codes
- In Process
- 50595-8 - Path Interp Spec-Imp
- 81178-6 - Block description and site Spec
- 22634-0 - Path report.gross Spec
- 19139-5 - Pathologist name
- 35265-8 - Path Report.addendum Spec
- 62364-5 - Test performance info Spec
- 80398-1 - Unique ID Current sample
Result Turnaround Time
1-2 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (Fresh)
Volume
Not provided
Minimum Volume
1 Slide
Container
Positively charged glass slide (25 × 75 × 1 mm)
Collection Instructions
Submit 1 frozen tissue unstained positively charged glass slide, 4‑micron sections, centered on slide, shipped on dry ice