Publication at Faculty of Medicine in Pilsen |
2019
Abstract
The article summarizes current possibilities of cytogenetic and molecular-genetic methods and their routine use especially for health services. Genetic examinations include not only diagnostic testing but also predictive, predisposing, prenatal / preimplantation and carrier testing.
A summary of the benefits and pitfalls of a panel testing using next generation sequencing (NGS) - secondary findings variants of unknown significance, recommendations for anonymized sharing aboratory and clinical data, and testing of minors.