| Test: |
5-alpha reductase |
| Alternate names: |
SRD5A2, steroid-5-alpha-reductase |
| Description: |
This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). |
| 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: |
Ms Surita Meldau |
| Tel: |
021 404 4449 |
| email: |
surita.meldau@nhls.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 |
