1. Biochemical testing: Test blood, urine, amniotic fluid or amniotic membrane cell samples through chemical means to check whether relevant proteins or substances are present and determine whether there is a genetic defect. Used to diagnose a genetic defect caused by an imbalance in a certain protein that maintains normal body functions, usually by testing the protein content. It can also be used to diagnose phenylketonuria, etc.

2. Chromosome analysis: Chromosome analysis directly detects abnormalities in the number and structure of chromosomes, rather than examining mutations or abnormalities in a gene on a certain chromosome. Often used to diagnose fetal abnormalities.

3.DNA analysis: DNA analysis is mainly used to identify genetic diseases caused by single gene abnormalities, such as Huntington's disease. The cells for DNA analysis are from blood or fetal cells. Extended information

Genetic testing can be divided into the following five categories:

1. Genetic screening: mainly testing for specific groups or the entire population. Most screening is done through prenatal or newborn genetic testing.

2. Reproductive genetic testing: It can be used during the in vitro artificial insemination stage to screen out whether the embryo has genetic mutations to prevent the fetus from suffering from genetic diseases.

3. Diagnostic testing: Most are used to assist clinical medication guidance.

4. Gene carrier testing: If a gene carrier is combined with some special genes, it may cause the next generation to suffer from genetic diseases. This possibility can be screened out through the testing of gene carriers. As a gene Reference for premarital examination and childbirth for carriers.

5. Testing before symptoms appear: The purpose of testing is to find out whether currently healthy people carry a certain mutated gene, and this gene is closely related to the occurrence of a specific disease.

Baidu Encyclopedia - Genetic Testing