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Pulmonary Vascular Disease: Cystic Fibrosis |

Genotypes, Prevalence and Serum Levels of Alpha-1 Antitrypsin F and I Variants in a Clinical Screening Program

Christopher Sanders, MS; Joannah Kim, MS
Author and Funding Information

Biocerna LLC, Gaithersburg, MD


Copyright 2016, American College of Chest Physicians. All Rights Reserved.


Chest. 2016;150(4_S):1131A. doi:10.1016/j.chest.2016.08.1241
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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.

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