SeaSun Biomaterials, a company specializing in genetic diagnosis, announced on the 7th that it has received marketing approval from the Ministry of Food and Drug Safety of 'Utop Hearing Loss Genetic Diagnosis Kit Version 2', the second genetically developed hereditary hearing loss screening test product.

This product can test 11 mutations of 5 hearing loss genes (OTOF, COCH, ATP1A3, MPZL2, TMC1) by real-time PCR and derive results within 2 hours.

Version 1, launched in 2016, can also screen for 5 genes (GJB2, SLC26A4, 12S rRNA, CDH23, TMPRSS3) and 11 mutations, so when tested with both products, 10 genes that cause hearing loss at high frequency 22 It can cover species mutations.

Choi Byung-yoon, a professor of otorhinolaryngology at Seoul National University Bundang Hospital, who was in charge of the licensed clinical trial, said, "In the performance verification of 121 Korean hearing loss patients, both sensitivity and specificity showed excellent results of 100%." It is estimated that it covers a total of 80% of the four major gene mutations in high-depth hearing loss. With this version 2 approval, it is possible to increase the screening rate by 10%."

“The U-TOP Hearing Ross diagnostic kit series is based on gene mutations that occur specifically in East Asians, including Koreans, and is highly related to disease in consideration of differences in the frequency of genes by race. "We have increased the efficiency of the test by applying a multiple test method that can be analyzed."

In particular, version 2 of the OTOF and ATP1A3 genes contain tricky mutations that are difficult to detect by the next generation sequencing (NGS) method. It was recently discovered by Professor Byung-yoon Choi and Professor Bong-jik Kim of the Department of Otorhinolaryngology, Chungnam National University Hospital, as a major cause of auditory neuropathy in Korean children and adults, which is unclear and the treatment is not well established.

Importantly, it is reported that patients with positive for these genes undergo cochlear implant surgery as soon as possible to have excellent hearing resilience, which is expected to be of great help in deciding whether to perform cochlear implantation and predicting the prognosis.

Park Hee-kyung, CEO of SeaSun Biomaterials, said, "Even if the parents have normal hearing, they can give birth to a child with hearing loss if they have a mutation in the hearing loss gene. Therefore, not only the child, but also parents need to check and cope with the possibility of developing hearing loss through the hearing loss genetic test Do" he advised.

Congenital hearing loss is a common disease that occurs in 1-3 per 1,000 newborns in Korea, and it is more than 30 times more frequent than neonatal inherited metabolic diseases such as phenylketonuria and hypothyroidism. In particular, since hearing impairment can cause speech and intelligence development disorders, the government has steadily expanded the congenital hearing loss screening test and hearing aid support projects for early detection and rehabilitation of congenital hearing loss.