Assisting in the diagnosis of hereditary nephritis (Alport syndrome)
Direct Immunofluorescence
RBALPRTIF
Special
1. Advise shipping frozen specimens (unstained slides or tissue block) in Styrofoam transportation coolers filled with dry ice to ensure specimens are received at required specimen stability temperature.
2. Attach the green "Attention Pathology" address label (T498) to the outside of the transport container before putting into the courier mailer.
A pathology/diagnostic report is required.
Submit only 1 of the following specimens:
Preferred:
Specimen Type: Unstained slides (unfixed)
Source: Kidney tissue or skin tissue
Slides: 1 Slide
Collection Instructions: Submit 1 frozen tissue unstained positively charged glass slide (25- x 75- x 1-mm) per test ordered; sections should be 4-microns thick, centered on the slide, and shipped on dry ice.
Acceptable:
Specimen Type: Unfixed tissue block (O.C.T)
Source: Kidney tissue or skin tissue
Specimen Volume: Entire specimen
Collection Instructions:
1. Embed in O.C.T. compound.
2. Freeze specimen and ship on dry ice.
Acceptable:
Specimen Type: Wet tissue
Source: Kidney tissue or skin tissue
Supplies: Renal Biopsy Kit (T231)
Container/Tube: Renal Biopsy Kit, Zeus/Michel's
Specimen Volume: Entire specimen
Collection Instructions:
1. Collect specimens according to the instructions in Renal Biopsy Procedure for Handling Tissue for Light Microscopy, Immunofluorescent Histology, and Electron Microscopy.
2. If standard immunoglobulin and complement immunofluorescence has already been performed, ship the residual frozen tissue (must contain glomeruli) on dry ice.
1. Renal Biopsy Patient Information
2. If not ordering electronically, complete, print, and send a Renal Diagnostics Test Request (T830) with the specimen.
See Specimen Required
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Special | Frozen |
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.
An interpretive report will be provided.
This test (when not accompanied by a pathology consultation request) will be reported as one of the following:
1) Normal pattern
2) Consistent with X-linked hereditary nephritis
3) Consistent with autosomal hereditary nephritis
If additional interpretation or analysis is needed, request PATHC / Pathology Consultation along with this test and send the corresponding renal pathology light microscopy and immunofluorescence (IF) slides (or IF images on a CD), electron microscopy images (prints or CD), and the pathology report.
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.
1. Kagawa M, Kishiro Y, Naito I, et al. Epitope-defined monoclonal antibodies against type-IV collagen for diagnosis of Alport's syndrome. Nephrol Dial Transplant. 1997;12(6):1238-1241
2. Hashimura Y, Nozu K, Kaito H, et al. Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV alpha 5 chain. Kidney Int. 2014;85(5):1208-1213
3. Kamiyoshi N, Nozu K, Fu XJ, et al. Genetic, clinical, and pathologic backgrounds of patients with autosomal dominant Alport syndrome. Clin J Am Soc Nephrol. 2016;11(8):1441-1449
4. Said SM, Fidler ME, Valeri AM, et al. Negative staining for COL4A5 correlates with worse prognosis and more severe ultrastructural alterations in males with Alport syndrome. Kidney Int Rep. 2016;2(1):44-52
Direct immunofluorescence staining on sections of fresh/frozen tissue.(Unpublished Mayo method)
Monday through Friday
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.
88346
Test Id | Test Order Name | Order LOINC Value |
---|---|---|
ALPRT | ALPORT Immunofluorescence | 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.
|
---|---|---|
71285 | Interpretation | 50595-8 |
71268 | Participated in the Interpretation | No LOINC Needed |
71272 | Material Received | 81178-6 |
71271 | Gross Description | 22634-0 |
71269 | Report electronically signed by | 19139-5 |
71270 | Addendum | 35265-8 |
71619 | Disclaimer | 62364-5 |
71848 | Case Number | 80398-1 |
Change Type | Effective Date |
---|---|
Test Changes - Specimen Information | 2025-02-06 |