What is genetic testing? Is there any specific content?

Genetic testing is a technique to detect DNA through blood, other body fluids or cells. It is a method to take the peripheral venous blood or other tissue cells of the subject, amplify their genetic information, and then detect the DNA molecular information in the cells of the subject through special equipment, and analyze whether the gene type, gene defect and expression function are normal, so as to make people know their own genetic information, clarify the cause or predict the risk of a certain disease.

Genetic testing can be divided into the following five categories:

1. gene screening

Mainly for a specific group of people or all the people to test. Most of them achieve the purpose of screening through prenatal or neonatal genetic testing.

2. Detection of reproductive genes

It can be used in the stage of in vitro artificial insemination to screen whether the embryo has genetic variation and avoid the fetus from hereditary diseases.

3. Diagnostic test

Most of them are used to assist clinical medication guidance.

4. Gene carrying test

If gene carriers combine with some special genes, it may lead to genetic diseases in the next generation. This possibility can be screened out through the detection of gene carriers as a reference for premarital examination and fertility of gene carriers.

5. Detection before symptoms appear

The purpose of the test is to find out whether there are mutant genes closely related to the occurrence of specific diseases in healthy people.

Extended data:

There are generally three methods for gene detection: biochemical detection, chromosome analysis and DNA analysis.

1. Biochemical detection

Biochemical detection is to detect blood, urine, amniotic fluid or amniotic cell samples by chemical means to check the existence of related protein or substances to determine whether there is genetic defect. Used to diagnose a genetic defect, which is caused by protein imbalance that maintains the normal function of the body. Protein content is usually detected. It can also be used to diagnose phenylketonuria.

2. Chromosome analysis

Chromosome analysis is to directly detect the abnormality of chromosome number and structure, rather than to check the mutation or abnormality of a gene on the chromosome. Usually used to diagnose fetal abnormalities.

The common chromosomal abnormality is an extra chromosome, and the cells used for detection are from blood samples. If it is a fetus, cells are obtained by amniocentesis or villus sampling. Dye to make chromosomes stand out, and then observe whether there is any abnormality with a high-power microscope.

3.DNA analysis

DNA analysis is mainly used to identify genetic diseases caused by single gene abnormality, such as Huntington's disease. The cells used for DNA analysis come from blood or fetal cells.

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