| Test: |
Alpha 1 Antitrypsin deficiency |
| Alternate names: |
SERPINA1 / AATD / A1AT |
| Description: |
Alpha-1-antitrypsin is a protease inhibitor, deficiency of which is associated with emphysema and liver disease. AATD caused by the common deviciency allele, PI*Z, is characterized by chronic obstructive pulmonary disease (COPD) in adults and liver disease in children and adults. |
| Clinical: |
|
| Methodology: |
Sequencing to detect the common PI*S and PI*Z alleles. |
| Turn around time: |
4 - 6 weeks |
| Transit stability: |
Blood/buccal swab if delayed keep cool or frozen |
| Comments: |
|
| Sample: |
Blood EDTA 2 ml, dried blood spots or buccal swabs |
| Type: |
Genetics |
| Method: |
Genotyping |
 |
|
| 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 |
