| Test: |
SURF 1 gene - Surfeit locus protein |
| Alternate names: |
|
| Description: |
The SURF1 protein plays an important role in the assembly of Complex IV (CIV or COX, cytochrome c oxidase of the mitochondrial respiratory chain). Mutations in SURF1 gene cause complex IV deficiency leading to Leigh syndrome, a severe neurological disorder. Patients usually have early onset and rapidly progressive encephalopathy characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions.
|
| Clinical: |
|
| Methodology: |
|
| Turn around time: |
|
| Transit stability: |
|
| Comments: |
|
| Sample: |
Blood EDTA 2 ml, dried blood spots or buccal swabs |
| Type: |
Genetics |
| Method: |
Whole gene screen |
 |
|
| Consultant/scientist: |
Dr Fierdoz Omar |
| Tel: |
021 404 4118 |
| email: |
fierdoz.omar@uct.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 |
