With the continuous progress of research, eight causative genes for congenital hyperinsulinemia have been identified so far, which are clinically classified into seven genetic types. The testing of pathogenic genes in children with CHI is of great significance, mainly in the following aspects: 1. It helps to clarify the real cause of the development of the child. This is a common problem that plagues many parents of children with CHI. 2. It helps to determine the histological type of the pancreas of the child. Based on the results of the pathogenic gene test combined with the clinical characteristics of the child and the results of the pancreas scan, the histological type of the child’s pancreas can be more accurately determined, so that a more scientific and reasonable treatment plan can be formulated. 3. It helps to judge the efficacy and prognosis of children. The outcome, prognosis and disease regression of children carrying different disease-causing mutations may vary. 4. It helps to promote eugenics. The results of genetic testing of the child and the parents can determine the source of the mutation in the child’s disease-causing gene. Is the mutation from the father? The mother? Or is it a newborn mutation? It is important to identify the mode of inheritance of the mutation for family eugenics. Combined with advanced prenatal screening techniques, this can minimize the chance of having the same child again. It is recommended that families and regions with children diagnosed with CHI should be tested for CHI-related pathogenic genes as soon as possible after diagnosis. Foreign studies show that about 50% of children with CHI have detectable mutations in the relevant pathogenic genes. In another 50% of children, the causative gene is not known. This suggests that the disease has a complex pathogenic mechanism.