Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories

To the Editor Defining both the means and the safety of genetic testing is not only important for public health care organisation planning and evaluation but also for the intense public interest and concern about anything labelled ‘genetics’. Advances in molecular genetics have made available an increasingly high number of genetic tests reputedly able to disclose the genotypic alterations implicated in inherited diseases (Davey Smith et al., 2005). In particular, the advent of PCRbased technology, considered as a simple and rapid diagnostic tool, encouraged an enormous number of laboratories to provide genetic testing to patients (Chen et al., 2005). This scenario has great commercial appeal and has resulted in the production of a large number of PCR-based kits on sale for molecular testing. Although some commercial kits are currently widely used in laboratories, their usage should be carefully considered, as the manufacturers do not always provide detailed information.