Bestseq pathogenic gene detection technology is a target capture sequencing technology independently developed by high-throughput sequencing Platform Company. This technology inherits all the advantages of high-throughput sequencing and has some unique advantages. It is a new and efficient gene analysis technology in the field of human genetics and disease research. BestSeq's pathogenic gene detection technology is just like sucking iron filings out of the sand with a magnet, which can' capture' pathogenic genes very easily, so that the examinee can pay attention to prevention and reduce the probability of sudden death. The purpose of pathogenic gene detection is "diagnosis", that is, by identifying the mutation of pathogenic gene, the disease can be diagnosed accurately 100%. Through early diagnosis, early prevention and early treatment, the malignant consequences of the disease can be avoided.
Using BestSeq targeted capture sequencing technology, early and accurate "gene diagnosis" of thousands of single-gene genetic diseases can be realized. Compared with the first-generation sequencing technology, gene chip technology and common high-throughput sequencing technology, BestSeq detection technology has certain advantages in accuracy, economy and efficiency. The application of BestSeq detection technology can not only detect common known pathogenic genes, but also detect hundreds of related possible pathogenic genes at the same time, which reduces the missed diagnosis rate and provides an effective means for discovering new pathogenic genes.
The breakthrough of low-cost pathogenic gene detection technology has attracted medical attention. Kangxu Medical Laboratory cooperated with Beijing Tiantan Hospital, Beijing Cancer Hospital, China-Japan Friendship Hospital, Tiantan Hospital, Fuwai Cardiovascular Hospital and some scientific research institutions to establish and promote the development of "molecular medicine" as a new medical discipline in China, and developed and improved new diagnosis and treatment technologies, comprehensive treatment schemes and selective fertility technologies for various malignant hereditary diseases in various medical disciplines, and achieved certain results in the research of prevention and treatment technologies. Cut off the genetic channel of malignant hereditary diseases, reduce the morbidity and mortality, improve the early diagnosis rate and cure rate, effectively improve the quality of life of patients and reduce the medical burden of patients; At the same time, a standardized database of pathogenic gene detection for each disease is established to facilitate clinical gene diagnosis.
In addition, the application of pathogenic gene detection technology in physical examination of normal people can also play an important role. For example, for serious genetic diseases such as hereditary neuromuscular system diseases such as hereditary spastic ataxia type I, hereditary cardiovascular diseases such as hypertrophic cardiomyopathy, and hereditary malignant tumors, patients are unaware of their own diseases, and routine physical examination cannot make early diagnosis. However, for such single genes that are hidden before onset and have dangerous clinical manifestations,