Alpha-1 Antitrypsin (AAT) deficiency is an inherited disorder, which is still an underappreciated, but treatable cause of chronic obstructive pulmonary disease (COPD). The AAT RealFast™ Assay is designed for the simultaneous detection of protease inhibitor (PI) variants *S and *Z of the SERPINA1 gene, representing the most frequent alleles associated with AAT deficiency.

Alpha-1 Antitrypsin Deficiency

• Low serum levels of protease inhibitor AAT leading to unopposed proteolysis in the lungs result in damage of alveolar tissue and development of COPD.
• Individuals carrying the PI*ZZ genotype are at a high risk of developing emphysema and liver disease, whereas PI*SZ carriers have lower risk. PI*MM, *MS or *SS genotypes have normal or only slightly decreased AAT plasma levels.
• Genetic testing for SERPINA1 variants can support the diagnosis of AAT deficiency as the cause of early onset emphysema, bronchiectasis, unexplained liver disease, or necrotizing panniculitis.