| Test: |
Ryanodine receptor 1 |
| Alternate names: |
RYR1 / centronuclear myopathy |
| Description: |
This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. |
| Clinical: |
Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. |
| Methodology: |
Testing offered for 5 Common mutations that cause an AR form of centronuclear myopathy in SA patients. |
| Turn around time: |
4 weeks |
| Transit stability: |
|
| Comments: |
|
| Sample: |
Blood EDTA 5 ml |
| Type: |
Genetics |
| Method: |
Point mutation analysis |
 |
|
| Consultant/scientist: |
Dr Fierdoz Omar |
| Tel: |
021 404 4118 |
| email: |
fierdoz.omar@uct.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 |
