Zhenzhixuan is a product that accurately diagnoses the cause of children's neurodevelopmental disorders. Nervous system genetic disease refers to a type of disease whose main clinical manifestation is neurological deficits caused by abnormal genetic material. It is a number of genetic diseases. Most diseases. Many genetic diseases of the nervous system have high rates of disability, teratogenesis, and foolishness, and there are great difficulties in diagnosis and treatment.
At present, the diagnosis of genetic diseases of the nervous system is mainly based on the preliminary diagnosis of medical history, symptoms, signs and auxiliary examinations, and it is difficult to achieve precise diagnosis and treatment. The key to precise diagnosis and treatment is to locate genetic mutations related to disease diagnosis, treatment and prognosis through genetic diagnosis, and to develop individualized medical solutions on this basis. Modern clinical medicine is in a period of transition from group medical treatment to individual medical treatment, and precision medicine will provide new ideas for the diagnosis and treatment of genetic diseases.
- The use of genetic testing to assist clinical diagnosis can help doctors and patients identify the cause of the disease as soon as possible, make early diagnosis, early intervention, and early recovery, while reducing inappropriate testing, treatment and related costs;
- Genetic testing can predict the prevalence of individuals with family history, and providing genetic counseling is of great significance for fertility guidance and prevention of birth defects;
- Genetic testing can provide clinicians with reference for disease prognosis information and provide reasonable treatment and nursing plan suggestions;
- Carry out the diagnosis of disease-causing genes through genetic testing, accumulate genomic data, and lay the foundation for future drug clinical trials and gene therapy.
- The low positive rate is often related to the choice of detection strategy. The WES plus customized by Enyuan Biotech detects 180,000 exons of about 25,000 genes in the entire exome group at one time, and also includes non-exons in the ClinVar database. The region has a clinically significant variant site. At the same time, 10000X high-depth sequencing of the mitochondrial genome is carried out, and 100% full coverage of the mitochondrial genome is detected.
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Customize WES Plus to improve clinical diagnosis rate
- Provide one-to-one genetic counseling services: Genetic counseling is an indispensable relief for genetic diagnosis. The process of genetic counseling is more complicated, and specialists lack systematic genetic knowledge. Enyuan Bio's genetic consulting team provides individualized and standardized genetic consulting services throughout the entire testing process for clinical medical workers.
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Professional genetic counseling team
