Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis

Genetic α-1 antitrypsin (AAT) deficiency is characterized by low serum AAT levels and the identification of causal mutations or an abnormal protein. It needs to be distinguished from deficiency because of nongenetic causes, and diagnostic delay may contribute to worse patient outcome. Current routine clinical testing assesses for only the most common mutations. We wanted to determine the proportion of unexplained cases of AAT deficiency that harbor causal mutations not identified through current standard allele-specific genotyping and isoelectric focusing (IEF).

Source: Journal of Molecular Diagnostics - August 27, 2015 Category: Pathology Authors: 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 Tags: Regular Article Source Type: research