Abstract

Genetics diagnostics of patients with suspicion of immunodeficiency has been affected by poorly validated genetic tests, lack of transparency, and testing solutions that are not optimized for maximal diagnostic yield. Our goal was to develop a high quality next generation sequencing (NGS) platform, transparently and comprehensively validate its quality and performance, and report our experiences with hundreds of patients suspected with primary immunodeficiency (PID).

Keywords: immunology, diagnostics, validation, primary immunodeficiency (PID)

Authors: Kim Gall, Pertteli Salmenperä, Mikko Muona, Massimiliano Gentile, and Juha Koskenvuo, Blueprint Genetics, Helsinki, Finland.