| Test: |
Mitochondrial DNA deletions |
| Alternate names: |
Kearn-Sayers / Pearsons / CPEO |
| Description: |
Kearns-Sayre syndrome (KSS) / CPEO is caused by large deletions of mitochondrial DNA. Patients with KSS usually exhibit signs and symptoms before the third decade of life, with ophthalmoplegia, ptosis, pigmentary retinopathy, and one of the following: cardiac conduction defect, cerebellar dysfunction, or elevated CSF protein (>100 mg/dl). Patients may also have heterogeneous multisystemic disorders. The mutant mitochondrial DNA is usually detectable in muscle but not in blood. Therefore if KSS is suspected, a muscle specimen is recommended. In general, KSS is sporadic. However, in rare cases, if the deletion is present in blood and/or with a partial duplication, the deletion mutant may be transmitted to offspring.
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| Clinical: |
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| Methodology: |
Long range PCR and electrophoresis. |
| Turn around time: |
4-6 weeks |
| Transit stability: |
Keep muscle frozen / urine at RT |
| Comments: |
EDTA blood accepted, but not ideal. |
| Sample: |
Frozen muscle biopsy or urine (room temp) preferred. |
| Type: |
Genetics |
| Method: |
Deletion 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 |
