1. SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis 
Rondell P. Graham, Michelle A. Dina, Sarah C. Howe, Malinda L. Butz, Kurt S. Willkomm, David L. Murray, Melissa R. Snyder, Kandelaria M. Rumilla, Kevin C. Halling, W. Edward Highsmith 
The Journal of Molecular Diagnostics 
Volume 17, Issue 6, Pages (November 2015)
DOI: /j.jmoldx
Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2. Figure 1
A scaled diagram mapping the primer coverage across SERPINA1, including exons 2d, 3, 4, 5, and 6.
The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx )
Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3. Figure 2
Proposed algorithm for α-1 antitrypsin (AAT) deficiency testing. In this algorithm, individuals with low serum AAT are evaluated by targeted testing. If the results explain the serum level, then the result can be reported and no further testing is required. If the results do not explain the serum level, then sequencing of the entire coding regions of SERPINA1 may identify deleterious alterations responsible for AAT deficiency. Also, for individuals with normal isoelectric focusing (IEF) results and low serum AAT, sequencing of the coding region of SERPINA1 can be diagnostically helpful.
The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx )
Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions