Molecular diagnostics is an important part of personalized medicine and has become the main driving force of the in vitro diagnostics industry. In recent years, China's molecular diagnostics industry has been growing rapidly, despite its small size. Based on literature research, expert interviews, and field investigation, we performed an intensive market analysis of the current situation of the domestic molecular diagnostics industry. The aim of this study is to explore the characteristics of the domestic molecular diagnostics industry; identify opportunities and challenges in innovation, industrial transformation, and related policies and regulations; and propose approaches to overcome existing constraints under the current administrative system. This analysis is of great significance for promoting the development of China’s molecular diagnostics industry.