Serum (Gold Top)
Minimum volume: 1 mL (2 mL for phenotyping)
EDTA blood sample required for genotyping (Purple top, minimum volume 4 mL)
0.9 – 2.0 g/L
Same Day (Monday – Friday)
A1AT phenotyping – referral test (within 2 weeks)
7 days at 15‐25°C
3 months at 2‐8°C
3 months at -20°C
Alpha-1 antitrypsin (A1AT) is the major serine protease inhibitor in plasma. It irreversibly binds to proteases, such as trypsin, elastase and plasmin, to inhibit them. If not inhibited, these proteases cause breakdown of normal proteins resulting in tissue damage. A1AT is usually in excess and has a protective role by preventing this tissue damage. A1AT is also an acute phase protein which increases in inflammatory responses and conditions.
A1AT deficiency is a genetic disease associated with early onset emphysema and liver disease. A1AT can be measured in the further investigation of pulmonary or liver disease. If levels are low, A1AT phenotyping is available to confirm A1AT deficiency. Genotyping is also available in the absence of a common phenotype.