TEST DETAILS |
BACK |
| Test: | 5-oxoprolinuria |
| Alternate names: | GSS, glutathione synthetase |
| Description: | Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. |
| Clinical: | |
| Methodology: | Gene screen |
| Turn around time: | 3 months |
| Transit stability: | |
| Comments: | |
| Sample: | Blood EDTA 5 ml |
| Type: | Genetics |
| Method: | Whole gene screen |
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| Consultant/scientist: | Dr Fierdoz Omar |
| Tel: | 021 404 4118 |
| email: | fierdoz.omar@uct.ac.za |
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| Contact for results: | Ms Surita Meldau |
| Tel: | 021 404 4449 |
| email: | surita.meldau@uct.ac.za |
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| Delivery address | C17 NHLS Labs, NGSH, Observatory, 7925 |
| for samples: | Cape Town |
