Detection of a functionally deficient AAT protein variant by protease inhibitor (PI) typing
AAT Protein, AESlyte HR 4.2-4.9
Alpha-1-antitrypsin deficiency (AATD) is a rare hereditary condition resulting from the mutations in the SERPINA1 (serine protease inhibitor) gene and is characterized by low circulating levels of the alpha-1 antitrypsin (AAT) protein. The traditional algorithm for laboratory testing of AATD involves the analysis of AAT concentrations (nephelometry), phenotyping (isoelectric focusing, IEF), and genotyping (polymerase chain reaction, PCR).
For IEF the ampholyte HR 4.2-4.9 is required. Did you know that Isogen Life Science is the only provider for this ampholyte?
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