| Test: |
Galactose-1-phosphate uridyl transferase |
| Alternate names: |
GALT |
| Description: |
Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. |
| Clinical: |
Galactosemia |
| Methodology: |
Common Southern African point mutations and full gene screen are offered. |
| Turn around time: |
4-6 weeks / 3 months (gene screen) |
| Transit stability: |
|
| Comments: |
Either common mutation or full gene screen offered |
| Sample: |
Blood EDTA 2 ml, dried blood spots or buccal swabs |
| Type: |
Genetics |
| Method: |
Point mutation analysis |
 |
|
| 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 |
