| Test: |
Glutaryl-coenzyme A dehydrogenase |
| Alternate names: |
GCDH |
| Description: |
|
| Clinical: |
Glutaric aciduria type I |
| Methodology: |
Common mutation (p.A293T) and full gene sequencing offered. |
| Turn around time: |
4-6 weeks (common mutation) / 3 months (full 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 |
