Alpha-1-antitrypsin (A1AT)
| Category | Biochemistry >> Proteins | ||||||||||||||
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| Test background |
Familial A1AT deficiency leads to predominantly unrestricted proliferation of neutrophil-mediated elastase in the tissues of the lung, causing extensive collateral damage and subsequent emphysema-like symptoms in adults. Alternatively, neonatal accumulation of dysfunctional A1AT in the liver causes the production of abnormal polymers that damage the surrounding tissues of the liver. |
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| Clinical Indications |
Unexplained liver cirrhosis in juveniles (and rarely adults) Suspected early-onset emphysema (juveniles/adults) or emphysema with or without family history Observed deficiency as seen on routine serum electrophoresis |
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| Reference range |
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| Sample & container required | Serum (red top) or SST (gold top) | ||||||||||||||
| Sample volume | 0.5 mL | ||||||||||||||
| Transport storage | Stable at 2-8°C for 72 hours. Please freeze pending dispatch for analysis. Sample can be sent by first class post. |
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| Turnaround time | 1 week | ||||||||||||||
| Notes | Grossly haemolysed samples are unsuitable for this assay. |