PROGENIKA BIOPHARMA, SA 1292380000 A1AT Genotyping Test

The A1AT Genotyping Test uses Polymerase Chain Reaction (PCR) amplification to obtain large amounts of the target sequences in the serpin peptidase inhibitor class A member 1 (SERPINA1) gene. The A1AT Genotyping Test relies on allele-specific probes attached to color-coded microspheres, which hybridize specifically to the labeled PCR products. A subsequent fluorescent labeling step allows detection and quantification of the hybridization signal. A1AT Genotyping Test generates a simultaneousmultiplex reaction in a single well, avoiding the need to run separate methods in parallel. The software outcome is allelic variant genotypes and associated alleles. A1AT genotyping Test simultaneously detects and identifies 14 allelic variants and their associated alleles found in the Alpha-1 antitrypsin (A1AT) codifying gene SERPINA1. The test is intended for use with genomic DNA extracted from human whole blood samples collected as dry blood spots (DBS) or in K2-EDTA or from human saliva samples collected as buccal swabs using ORAcollect Dx OCD-100. The A1AT allelic variant genotypes and associated allele results, when used in conjunction with clinical findings and other laboratory tests, are intended as an aid in the diagnosis of individuals with A1AT deficiency (A1ATD).