Genetic Testing For Alpha 1 – Antitrypsin Deficiency

Alpha1-antitrypsin deficiency (AATD) is an autosomal recessive genetic disorder that results in decreased production of functional alpha1-antitrypsin (AAT) protein or production of abnormal types of the protein that are functionally deficient. Individuals with AATD, especially smokers, have an increased risk of lung and liver disease. Available tests measure serum AAT levels and phenotype AAT protein variants. Genetic testing is also available to detect the most common pathogenic variants associated with AATD.