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.
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
Reference Range Adult: 1.1-2.1 g/L Newborn: 0.9-2.2 g/L Less than 6 months: 0.8-1.8 g/L 6 months-1 year: 1.1-2.0 g/L 1-5 years: 1.1-2.2 g/L 5-10 years: 1.4-2.3 g/L 10-15 years: 1.2-2.0 g/L
Sample Required Serum (red top) or SST (gold top)
Sample Volume 0.5 mL
Stable at 2-8oC for 72 hours. Please freeze pending dispatch for analysis.
Sample can be sent by first class post.
Turnaround Time 1 week
Grossly haemolysed samples are unsuitable for this assay.