| Test: |
Alanine glyoxalate amino transferase |
| Alternate names: |
AGXT |
| Description: |
|
| Clinical: |
Primary Hyperoxaluria type I |
| Methodology: |
RE digest for detection of the common p.A112D mutation.
Full gene sequencing also offered. |
| Turn around time: |
4-6 weeks for common mutation / 3 months for gene sequence |
| Transit stability: |
|
| Comments: |
|
| Sample: |
Blood EDTA 2 ml, dried blood spots or buccal swabs |
| Type: |
Genetics |
| Method: |
Gene sequencing |
 |
|
| 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 |
