Detection of the causal mutation for canine leukocyte adhesion deficiency (CLAD) using pyrosequencing

A missense mutation in the ITGB2 gene causes canine leukocyte adhesion deficiency (CLAD) in Irish setters. We constructed a diagnostic test to identify heterozygous CLAD carriers based on a newly developed technology termed pyrose-quencing. Although primarily designed for high-speed generation of DNA sequence in a gel-free system, the technology can be applied to rapid single-nucleotide polymorphism analysis in a clinical setting. The testing of 339 dogs originating from a total of 10 countries was conducted and CLAD carriers were identified within every country where more than one sample was analysed. This indicates that the CLAD mutation is widespread and that there is a strong need for a robust diagnostic test.