Shihe Gene uses a new generation of high-throughput sequencing technology to carry out individualized genetic testing on patients. The huge throughput greatly improves the quantity and accuracy of sequencing data, and the sequencing accuracy is improved by more than 300 times. After repeated optimization and demonstration, the sensitivity of Shihe bioinformatics platform is 10- 18 times higher than that of existing methods. Through the detailed analysis of sequencing information, based on medical knowledge, the test report is generated.
The next-generation sequencing technology has identified the target regions of oncogenes in high-throughput sequencing, and detected 382 most common cancer-related genes, most of which have clinical or laboratory targeted drugs. A new generation of targeted drugs can accurately kill cancer cells from tumor mutation, which can improve the survival rate of patients by more than 3 times.
What is retinoblastoma?
Retinoblastoma is a kind of cancer that occurs in one or both eyes of children. The incidence of neonatal retinoblastoma is about115000. It is estimated that 9000 children suffer from retinoblastoma every year in the world.
Retinoblastoma originated from the retina and can be divided into unilateral (monocular) and bilateral (binocular) retinoblastoma. About 60% of patients are unilateral, and the remaining 40% are bilateral. Most patients with retinoblastoma (90%) have no family history.
The most common early sign of retinoblastoma is that the child's eyes may be white. Detection of retinoblastoma by molecular genes is easy to diagnose and effective in early treatment.
RB 1 gene mutation is the source of retinoblastoma. Mutations in RB 1 gene may be inherited by parents (10%), but most of them occur before conception or early infant development (90%).
In about 2% patients with unilateral retinoblastoma, although RB 1 gene is normal, its pathogenic root is the change of copy number of MYCN gene.
We are testing DNA extracted from blood, tumor, amniotic fluid cells or other types of specimens in authorized laboratories. Cancer and other chronic diseases take a long time from the beginning to the onset. It seems that there is no disease, but it is not sick clinically. Maybe the disease is brewing in your body! Genetic testing can help you better predict diseases, prevent them as early as possible, and let health accompany you forever.
What kind of healthy people are suitable for genetic testing?
Genetic testing is suitable for everyone, and everyone can check whether there is a potential disease risk from genetic testing. For people with family history, people who work in dangerous and high-pressure environment, and people with weak constitution, we especially recommend genetic testing to prevent potential disease risks. Neonatal screening refers to a rapid and sensitive laboratory method for screening newborns for hereditary metabolic diseases, congenital endocrine abnormalities and some serious hereditary diseases. Its purpose is to screen those sick newborns before the clinical symptoms appear or when the symptoms are mild, so as to diagnose and treat them early and prevent irreversible damage to tissues and organs. Avoid mental retardation, serious illness or death of children.
Common screening items include metabolic defect diseases, known common chromosome variations, organ functional diseases and so on.
Traditional screening methods are limited by biochemical reagents, and each test can only screen one disease, which seriously affects the efficiency and feasibility of diagnosis of multiple diseases and may make your baby lose valuable treatment time. Genetic detection of cardiovascular diseases
According to the figures released by the Ministry of Health, since 2000, the mortality rate of cardiovascular diseases in China has increased rapidly, among which the mortality rate of coronary heart disease among young and middle-aged men aged 30 to 55 has increased the fastest. The baseline survey conducted by the World Heart Federation (WHF) and the Cardiovascular Branch of Chinese Medical Association in the "China Bridge Project for Secondary Prevention of Coronary Heart Disease" confirmed that most patients were not treated reasonably and effectively. In China, more than 80% of secondary hospitals can only provide thrombolytic therapy for patients with acute coronary heart disease; Statins, aspirin and other effective therapeutic drugs affirmed in the Guidelines for Secondary Prevention of Coronary Heart Disease formulated by the authoritative American Heart Association have not been well applied.
For the elderly, the safety of medication related to heart disease should be paid more attention. This is not only because cardiovascular disease is a common disease among the elderly in China, but also because with the increase of age, the physical quality of the elderly usually declines, the liver function usually declines correspondingly, and the liver metabolism speed of drugs also slows down correspondingly, which makes the blood drug concentration easy to rise and accumulate, thus increasing the adverse reactions of drugs. In addition, most drugs are excreted mainly through the kidneys. Because the number of glomeruli in the elderly is relatively reduced, even the glomerular filtration rate of healthy elderly people is also reduced. Therefore, the excretion rate of drugs that need renal excretion will inevitably be delayed, making the elderly relatively more likely to accumulate due to insufficient drug excretion.
Among the more than 50 million hospitalized patients in China every year, more than 5 million patients have had adverse drug reactions during hospitalization, resulting in 240,000 deaths each year, which is 1 1 times of the deaths of common l9 major infectious diseases.
Through the gene detection of safe drug use, we can detect the related genes involved in patients' drug use and decode the genetic information of patients, so as to guide patients to use drugs and decide whether a person is suitable to use a certain drug. If patients lack genes for metabolizing certain drugs or have low metabolic capacity, they are more likely to have adverse reactions.
Diabetes gene detection
Diabetes mellitus is a series of clinical syndromes caused by absolute or relative lack of insulin in the body, which is closely related to genetics. The main clinical manifestations of diabetes are drinking more, urinating more, eating more, losing weight ("three more and one less"), and high blood sugar and urine sugar (normal urine should not contain glucose).
The World Health Organization divides diabetes into four types: 1 type diabetes, type 2 diabetes, other types of diabetes and gestational diabetes. Although the symptoms of each type of diabetes are similar or even the same, the causes and distribution in different populations are different. Different types of diabetes will lead to the failure of β cells in the pancreas to produce enough insulin to reduce blood sugar concentration, which will lead to hyperglycemia. 1 type diabetes is generally caused by the destruction of insulin-producing β cells by the autoimmune system. Type 2 diabetes mellitus is caused by insulin resistance of tissues and cells (in general, cells no longer combine with insulin, so that the glucose entering cells to generate heat decreases and the glucose left in the blood increases), the function of β cells decreases or other reasons; Gestational diabetes mellitus, similar to type 2 diabetes mellitus, also originates from cellular insulin resistance, but its insulin resistance is caused by hormones secreted by pregnant women.
Both heredity and diet play an important role in the formation of diabetes. Studies have found that at least five or six genes are the main factors that directly lead to early diabetes. We have developed a corresponding testing program to help diabetic patients find out the root cause of the disease.