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Podocin
Scientific background:
Summary: Podocin is a component of the podocyte slit diaphragm. Mutations are responsible for an autosomal recessive disorder, the congenital steroid resistant nephrotic syndrome.
Methodology:
|
clinical
test |
Method |
Genomic sequencing of the entire coding region |
| Turn-around time |
15 working days |
| Effort |
little |
| Specimen |
DNA |
| Quality assessment |
Internal quality control only |
| |
All known and new missense, nonsense and splice mutations can be detected. |
 |
|
clinical
test |
Method |
Carrier testing |
| Turn-around time |
5 working days |
| Effort |
little |
| Specimen |
DNA |
| Quality assessment |
Internal quality control only |
| |
The test is only specific about the mutation already known in this kindred. |
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