The Department of Genetic Molecular Diagnostics at Shanghai Children's Medical Center is one of the few professional laboratories in domestic hospitals that offers a comprehensive range of genetic diagnostic services for hereditary diseases, with strong technical expertise and a well-established genetic counseling system. The core members of the laboratory have all received systematic training in genetics at the Department of Genetics, Harvard Medical School, for periods ranging from three months to two years. All laboratory SOPs, reporting methods, and ethical regulations are established in accordance with the guidelines recommended by the American College of Medical Genetics and Genomics, following the model of Boston Children's Hospital affiliated with Harvard Medical School. The laboratory is equipped with high-throughput genome sequencing platforms, genomic microarray analysis, and other genetic testing technologies, and employs advanced bioinformatics analysis pipelines from abroad. It is capable of performing genetic diagnosis for over 4,000 diseases, including monogenic genetic disorders, congenital heart disease, multiple malformations, intellectual disability, developmental delay, and autism. As of December 2020, the laboratory has conducted genetic diagnoses for more than 20,000 pediatric patients with rare diseases, preliminarily establishing the Chinese population-specific gene mutation spectrum for over 100 rare diseases. It was the first among domestic children's hospitals to establish a "Joint Medical Genetics Clinic" and a "Genetic Counseling Clinic," providing genetic counseling and prenatal guidance to over 3,000 families to date. Since its establishment, the laboratory has published a total of over 200 research papers (including more than 100 SCI-indexed articles with a cumulative impact factor >300), with representative papers appearing in international medical journals such as the *New England Journal of Medicine* and *Genetics in Medicine*. Eight individuals have been selected for Shanghai's "Young Outstanding Academic Leaders," "Shuguang Talent," and "Pujiang Talent" programs, and graduate students trained by the laboratory have received honors such as Shanghai's Outstanding Doctoral Graduate.