| Test: |
Cystic fibrosis |
| Alternate names: |
CF |
| Description: |
Cystic fibrosis is a genetic disorder known to be an inherited disease of the secretory glands, including the glands that make mucus and sweat. |
| Clinical: |
The hallmarks of cystic fibrosis are salty tasting skin, normal appetite but poor growth and poor weight gain, excess mucus production, frequent chest infections and coughing/shortness of breath. Males can be infertile due to congenital absence of the vas deferens. |
| Methodology: |
Caucasians and Mixed race
Mutational panel for > 30 most prevalent mutations plus
African Black Point mutation 3120 |
| Turn around time: |
4-6 weeks |
| Transit stability: |
1 week |
| Comments: |
When possible sweat test to confirm CF |
| Sample: |
Blood EDTA 2 ml, dried blood spots or buccal swabs |
| Type: |
Genetics |
| Method: |
30 mutation screen or full gene screen |
 |
|
| 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 |
