TEST DETAILS |
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| Test: | Thymidine Kinase 2 |
| Alternate names: | TK2 |
| Description: | This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010] |
| Clinical: | |
| Methodology: | Full gene sequencing offered. |
| Turn around time: | 3 months |
| Transit stability: | |
| Comments: | |
| Sample: | Blood EDTA 2 ml |
| Type: | Genetics |
| Method: | Gene sequencing |
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| Consultant/scientist: | Ms Surita Meldau |
| Tel: | 021 404 4449 |
| email: | surita.meldau@nhls.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 |
