Alpha-1 antitrypsin (A1AT) deficiency is one of the most common serious hereditary disorders in the world and can result in life-threatening lung or liver disease in children and adults. In fact, alpha-1 antitrypsin deficiency is the most common genetic cause of liver disease in children.

Sebia has received FDA clearance to market the HYDRAGEL® A1AT Isofocusing kit designed for the qualitative detection and identification of different phenotypes of alpha-1 antitrypsin. This marks the first FDA cleared kit for alpha-1 antitrypsin phenotyping. Phenotyping results, in conjunction with clinical findings and other laboratory assays, aid in the diagnosis of alpha-1 antitrypsin deficiency. Alpha-1 antitrypsin deficient may originally be detected by serum protein electrophoresis (SPE) in suspected cases and when the alpha-1 fraction is decreased, has an altered migration, or is absent.

Fresh serum samples are utilized with Sebia’s A1AT phenotyping assay, which is carried out in two stages. First, isoelectric focusing is carried out on agarose gel with the semi-automated HYDRASYS® Focusing system in order to fractionate the proteins. The HYDRASYS Focusing unit allows for consistent, reproducible results with a standardized procedure. The second stage involves immunofixation with anti-A1AT antiserum. The use of enzyme-labeled A1AT-antiserum enhances the detection and identification of the different phenotypes. This A1AT phenotyping assay is completed in less than half the time of other alpha-1 antitrypsin IEF homebrew methods; non-carcinogenic kit components are utilized. Sebia also offers a set of three FDA cleared A1AT Controls – Normal MM, Pathological MZ, and Pathological SZ.