Deafness is the most common sensory nervous system defect in human beings. According to the report of the second national sample survey of people with disabilities in 2006, there are 27.8 million people with hearing disabilities in China, accounting for 33.51% of the total number of people with disabilities, including 139,000 hearing-impaired children aged 0-6 years, and 20,000-30,000 deaf children are born every year. More than 50% of deafness is known to be caused by genetic defects, so it is especially important to conduct genetic research and genetic diagnosis for deafness. Genetic testing allows for rapid and accurate diagnosis of the disease through individualized “genetic testing”, and “cause-specific treatment” can improve the effectiveness of treatment, provide reliable genetic counseling, and enable early prevention and prenatal diagnosis of the disease. With the widespread development of newborn hearing screening, a lot of clinical experience has been accumulated in the early diagnosis of hearing disorders in newborns. Then the diagnosis of the etiology of deafness becomes more and more important. Inner ear malformations (including bony malformations, membrane malformations, and abnormalities at the cellular level) are one of the important etiologies of congenital sensorineural deafness. Foreign literature reports that 6.8-23% of children with congenital deafness exhibit abnormal CT of the temporal bone, while 8-20% of those with inner ear malformations, for which no clinical data are available in China. With the advancement of radiological imaging technology, the clinical use of HRCT can clearly display the fine structure of the inner ear, improve the detection rate of subtle lesions, and discover a large number of genetic deafness diseases such as large vestibular canal and other inner ear malformations. Recently, the role of MRI in the evaluation of microstructural malformations of the inner ear, including the morphology of the semicircular canal and the display of the nerves in the internal auditory canal, has gained increasing attention, leading to enhanced diagnosis of the cause of deafness. Our molecular diagnostic laboratory currently focuses on the molecular diagnosis of hereditary diseases in children, particularly the genetic diagnosis of hereditary deafness. Our key staff members have received systematic professional training at Boston Children’s Hospital, Harvard Medical School, and have fully adopted the Harvard system’s experimental standards to ensure the accuracy of genetic test results. The technical platform includes Illumina and Ion Torrent high-throughput sequencers, Affymetrix and Agilent microarrays and other international advanced instruments and equipment, and has genomics bioinformatics analysis systems such as Mutation Surveyor, NextGene and Ingenuity, which can perform all genetic tests from single bases to whole The lab has recently developed a high-throughput genomics-based genetic analysis system. Recently, the laboratory has developed a genetic diagnosis method for deafness based on high-throughput sequencing technology, which is capable of detecting more than 200 deafness genes simultaneously for the presence of genetic mutations and effectively ensures the detection rate and reliability of hereditary deafness.