| Test: |
nephrosis 2, idiopathic, steroid-resistant (podocin) |
| Alternate names: |
NPHS2, SRN |
| Description: |
This gene encodes the glomerular protein podocin which plays a role in the regulation of glomerular permeability, and acts as a linker between the plasma membrane and the cytoskeleton. Defects in this gene are the cause of autosomal recessive steroid-resistant nephrotic syndrome (SRN). SRN is characterized by onset between three months and five years, resistance to steroid therapy and rapid progression to end-stage renal disease. |
| Clinical: |
|
| Methodology: |
Gene screen |
| Turn around time: |
3 months |
| Transit stability: |
|
| Comments: |
|
| Sample: |
Blood EDTA 5 ml |
| Type: |
Genetics |
| Method: |
Whole gene screen |
 |
|
| Consultant/scientist: |
Dr Fierdoz Omar |
| Tel: |
021 404 4118 |
| email: |
fierdoz.omar@uct.ac.za |
|
|
| Contact for results: |
Ms Surita Meldau |
| Tel: |
021 404 4449 |
| email: |
surita.meldau@uct.ac.za |
|
|
| Delivery address |
C17 NHLS Labs, NGSH, Observatory, 7925 |
| for samples: |
Cape Town |
