Why get tested? To help diagnose the cause of early onset emphysema and/or liver dysfunction. To establish the risk of developing alpha-1 antitrypsin-related emphysema and/or liver disease and the likelihood that children might inherit the risk.
When to get tested? When you show signs of liver disease as an infant or young child, when you develop emphysema (a disease that damages the lungs) before age 40, or when you have a close relative with alpha-1 antitrypsin deficiency.
Sample required? A blood sample drawn from a vein in your arm