| Test: |
MELAS |
| Alternate names: |
|
| Description: |
MELAS is a multisystem disease caused by mutations in mitochondrial DNA. The most common mutation that accounts for 80% of the MELAS cases is 3243A>G in the MTTL1 gene. Due to genetic and clinical heterogeneity and multisystem dysfunction, we highly recommend the screening test for a patient suspected of MELAS, unless a specific mutation has already been detected in the family.
|
| Clinical: |
|
| Methodology: |
mtDNA |
| Turn around time: |
4-6 weeks |
| Transit stability: |
|
| Comments: |
EDTA blood accepted but not ideal |
| Sample: |
Frozen muscle biopsy or urine (room temp) preferred. |
| Type: |
Genetics |
| Method: |
Gene sequencing |
 |
|
| Consultant/scientist: |
Ms Surita Meldau |
| Tel: |
021 404 4449 |
| email: |
surita.meldau@nhls.ac.za |
|
|
| Contact for results: |
Ms Surita Meldau |
| Tel: |
021 404 4449 |
| email: |
surita.meldau@uct.ac.za |
|
|
| Delivery address |
C17 NHLS Labs, NGSH, Observatory, 7925 |
| for samples: |
Cape Town |
