TEST DETAILS |
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| Test: | Mitochondrial Polymerase Gamma |
| Alternate names: | POLG / Alpers syndrome |
| Description: | POLG related disorders include: Alpers-Huttenlocher Syndrome, Autosomal Dominant Progressive External Ophthalmoplegia, Autosomal Recessive Progressive External Ophthalmoplegia, Childhood Myocerebrohepatopathy Spectrum Disorders, Myoclonic Epilepsy Myopathy Sensory Ataxia, POLG-Related Ataxia Neuropathy Spectrum Disorders |
| Clinical: | |
| Methodology: | Full gene sequencing |
| 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 |
