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Test Code ALPRT Alport (Collagen IV Alpha 5 and Alpha 2) Immunofluorescent Stain, Renal Biopsy


Shipping Instructions


1. Advise shipping specimens in Styrofoam transportation coolers to avoid extreme hot or cold temperatures to ensure specimens are received at required specimen stability temperature.

2. Attach the green pathology address label included in the kit to the outside of the transport container.



Necessary Information


A pathology/diagnostic report is required.



Specimen Required


Preferred: Frozen tissue

Supplies: Renal Biopsy Kit (T231)

Specimen Type: Kidney tissue

Container/Tube: Transport medium (Michel's or Zeus media), frozen tissue

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, submit the residual frozen tissue (must contain glomeruli) on dry ice.

 

Acceptable: Frozen tissue

Slides: 2 Frozen tissue unstained positively charged glass slides (25-x75-x1-mm) per test ordered; sections 4-microns thick, submitted on dry ice

 

Specimen Type: Skin tissue

Container/Tube: Transport medium (Michel's or Zeus media)

Specimen Volume: Entire specimen

Collection Instructions: Submit punch biopsy in Zeus/Michel's media.


Forms

1. Renal Biopsy Patient Information

2. If not ordering electronically, complete, print, and send a Renal Diagnostics Test Request (T830) with the specimen.

Useful For

Assisting in the diagnosis of hereditary nephritis (Alport syndrome)

Method Name

Direct Immunofluorescence

Reporting Name

ALPORT Immunofluorescence

Specimen Type

Special

Specimen Stability Information

Specimen Type Temperature Time Special Container
Special Frozen (preferred)
  Ambient 
  Refrigerated 

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability

Clinical Information

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.

Reference Values

An interpretive report will be provided.

Interpretation

This test, (when not accompanied by a pathology consultation request) will be reported as:

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.

Cautions

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.

Method Description

Direct immunofluorescence staining on sections of fresh/frozen tissue.(Unpublished Mayo method)

Day(s) Performed

Monday through Friday

Report Available

1 to 2 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

88346

LOINC Code Information

Test ID Test Order Name Order LOINC Value
ALPRT ALPORT Immunofluorescence In Process

 

Result ID Test Result Name Result LOINC Value
71285 Interpretation 50595-8
71268 Participated in the Interpretation No LOINC Needed
71269 Report electronically signed by 19139-5
71270 Addendum 35265-8
71271 Gross Description 22634-0
71272 Material Received 81178-6
71619 Disclaimer 62364-5
71848 Case Number 80398-1