Inborn/inherited genetic disorder IVDs

Intended purpose

The Progenika A1AT genotyping kit (Reagents and Software) is a qualitative, polymerase chain reaction (PCR) and hybridization-based in vitro diagnostic test for the simultaneous detection and identification of 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 EDTA and from human saliva samples collected as buccal swabs 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).