| Test: |
NARP |
| Alternate names: |
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| Description: |
NARP and mitochondrial DNA associated Leigh syndrome are part of a continuum of progressive neurodegenerative disorders among those affected within the same family. The most common mutations are 8993T>G and 8993T>C mutations in the MTATP6 gene. The clinical phenotype is typically more severe with the 8993T>G mutation than the 8993T>C mutation. Usually a Leigh disease presentation is observed in patients with mutant heteroplasmy greater than 90%. Patients carrying approximately 75-90% mutant load may have NARP syndrome, and between 60-75% may exhibit only retinitis pigmentosa. Approximately 10-20% of individuals with Leigh disease have either the 8993T>G or 8993T>C mutation. Due to genetic and clinical heterogeneity and multisystem dysfunction, we highly recommend the mitochondrial DNA screening panel (see Mitochondrial DNA Screen (Point Mutations and Deletions)) for a patient suspected of NARP or Leigh disease, unless a specific mutation has already been detected in the family.
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| Clinical: |
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| Methodology: |
mtDNA |
| Turn around time: |
1 month |
| Transit stability: |
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| Comments: |
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| Sample: |
Blood EDTA 2 ml, dried blood spots or buccal swabs |
| Type: |
Genetics |
| Method: |
NOT GIVEN |
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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 |
