Podocin is a component of the podocyte slit diaphragm. Mutations are responsible for an autosomal recessive disorder, the congenital steroid resistant nephrotic syndrome.
Clinic | Method | Carrier testing |
Turnaround | 5 days | |
Specimen type | genomic DNA |
Clinic | Method | Massive parallel sequencing |
Turnaround | 25 days | |
Specimen type | genomic DNA |
Clinic | Method | Genomic sequencing of the entire coding region |
Turnaround | 15 days | |
Specimen type | genomic DNA |
Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
Turnaround | 25 days | |
Specimen type | genomic DNA |
1. |
Orphanet article Orphanet ID 123893 |
2. |
NCBI article NCBI 7827 |
3. |
OMIM.ORG article Omim 604766 |
4. |
Wikipedia article Wikipedia EN (Podocin) |