Specifications include, but are not limited to: Asuragen® Amplidex® PCR/CE CFTR Kits from Asuragen are a cost-effective tool for identifying gene mutations indicative of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Cystic Fibrosis is one of many disorders for which newborns are tested as part of the Newborn Screening Program operating within the State of Oregon. Asuragen® Amplidex® PCR/CE CFTR Kits will allow OPHL’s Newborn Screening program to conduct a total of 100 tests per year. Cystic fibrosis is the most common life-limiting autosomal recessive disorder in the Caucasian population. The disease incidence estimated to be 1 in 2,500 to 4,000 live births and affected children commonly experience decreased pulmonary function along with persistent respiratory infections, pancreatic insufficiency, and malnutrition. In the past, PHL has used kits with limited mutation panels (23 and 36) for a condition known to have over 2,000 variants, over 300 of which lead to disease. The Asuragen® Amplidex® PCR/CE CFTR assay detects 67 variants within the CFTR gene. The unique, curated list of variants targets 93% of those present within the United States (Beauchamp et al., 2019), rather than the most common variants present within the CFTR database. Additionally, the panel can identify at least one pathogenic mutation in >99% of CF patients (Castellani et al., 2018). The kit is easy to use and requires equipment already in the laboratory (ABI SeqStudio in the Virology section). Please note: This is a Sole Source Notification.
