SESSION TITLE: Cystic Fibrosis
SESSION TYPE: Original Investigation Poster
PRESENTED ON: Wednesday, October 26, 2016 at 01:30 PM - 02:30 PM
PURPOSE: To assess the prevalence and alpha-1 antitrypsin (AAT) serum levels associated with the rare F and I SERPINA1 variants in a large alpha-1 antitrypsin deficiency (AATD) screening program.
METHODS: Data was generated in the DNA1 Advanced Alpha-1 Screening™ Program (Biocerna, Gaithersburg, MD; funded by CSL Behring), which screens samples sent by physicians who suspect AATD in their patients. Blood samples collected on serum separator cards undergo a predetermined reflex testing strategy: A1-PI serum level by immunoturbidimetry (normal range 90-200 mg/dL), CRP level (≥5 mg/L indicative of inflammation), targeted genotyping, and reflex to isoelectric focusing for confirmation of abnormal variants. We report the frequency of F and I detection and associated AAT serum levels.