Genetic testing is a technology that detects DNA through blood, other body fluids, or cells. It is a method that takes peripheral venous blood or other tissue cells of the tested person, amplifies their genetic information, and then detects the DNA molecular information in the cell of the tested person through specific equipment to analyze the types of genes and gene defects contained in it, as well as whether its expression is normal or not, so as to enable people to understand their genetic information, clarify the causes of diseases, or predict the risk of the body suffering from certain diseases. This allows people to understand their own genetic information, identify the cause of disease, or predict the risk of developing certain diseases.
Genetic testing can be categorized into the following five types:
1. Genetic screening
Mainly for specific groups or the entire population. Most are done through prenatal or neonatal genetic testing for screening purposes.
2. Reproductive genetic testing
Can be used at the stage of in vitro fertilization to screen embryos for genetic variants and to prevent the fetus from suffering from hereditary diseases.
3. Diagnostic testing
Mostly used to assist in clinical dosing.
4. Gene carrier test
Gene carriers may cause genetic diseases in the next generation if they are combined with certain special genes, which can be detected through the gene carrier test, which can be used as a reference for pre-marital checkups and births of gene carriers.
5. Pre-symptomatic testing
The purpose of the test is to find out whether a person who is currently in good health carries a mutated gene that is closely linked to the development of a particular disease.
Extended information:
There are three general types of genetic testing: biochemical testing, chromosomal analysis and DNA analysis.
1. Biochemical testing
Biochemical testing is the use of chemical means to test blood, urine, amniotic fluid, or amniotic cell samples to check for the presence of relevant proteins or substances and to determine the presence of a genetic defect. It is used to diagnose a genetic defect that results from an imbalance in a certain protein that maintains normal body function, usually by testing the level of the test protein. Also used to diagnose phenylketonuria, among other things.
2. Chromosome analysis
Chromosome analysis directly detects abnormalities in the number and structure of chromosomes, rather than checking for mutations or abnormalities in a gene on a particular chromosome. It is often used to diagnose fetal abnormalities.
A common chromosomal abnormality is an extra chromosome, and the cells used for the test are obtained from a blood sample or, in the case of a fetus, by amniocentesis or chorionic villus sampling. They are stained so that the chromosome is highlighted, and then observed for abnormalities with a high-power microscope.
3. DNA analysis
DNA analysis is mainly used to identify hereditary diseases caused by abnormalities in a single gene, such as Huntington's disease, etc. Cells for DNA analysis come from blood or fetal cells.
Baidu Encyclopedia-Genetic Testing