Our scientists successfully cloned the human hereditary sensorineural deafness gene GJB3 in 1998, and recent studies have confirmed that congenital temporal bone malformation (mainly large vestibular aqueduct syndrome) is significantly associated with SLC26A4 gene mutation. A survey of the domestic deafness genetic resource collection network showed that GJB2 mutations were the most common, followed by SLC26A4 mutations, with a detection rate of 21% for the former mutation and about 15% for the latter mutation, and about 12% for the latter mutation. Although patients with late-onset dominant genetic deafness are born with the disease-causing mutation, their hearing may be completely normal at an early age, and progressively worsen as they grow older. Routine tests for deafness genes that have been applied in clinical practice include the mitochondrial DNA A1555G gene, GJB2 gene, PDS gene, and GJB3 gene. Deafness gene screening has a certain reference value for the diagnosis of congenital or hereditary deafness. Mutation of mitochondrial DNA A1555G gene is associated with deafness caused by aminoglycosides; GJB2 gene is considered the most common deafness-causing gene in our country, and children with positive GJB2 gene should be considered for the possibility of congenital or genetic deafness; mutation of PDS gene can cause large vestibular aqueduct syndrome, and PDS full sequence scan can be used as an objective indicator to analyze and diagnose large vestibular aqueduct syndrome; and The more common GJB3 gene, 538C>T, is currently known to cause deafness. 538C>T pure mutations in the GJB3 gene suggest a high probability of current deafness or future deafness, while 538C>T heterozygous mutations in the GJB3 gene suggest the possibility of future deafness or no deafness, and therefore require long-term hearing monitoring. It is important to emphasize that genetic testing for deafness is still very much in its infancy, with many influencing factors and limited clinical significance, and that one or more abnormal test values for a particular item do not necessarily lead to a definitive conclusion about the cause of deafness. Furthermore, deafness genetic testing only suggests the possibility of congenital or genetic deafness, which is a very small minority of the causes of deafness, and has only exclusionary diagnostic significance for the diagnosis of acquired sensorineural deafness, which is the majority of the causes of deafness.