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Three genetic testing methods biochemical testing, chromosomal analysis, and DNA analysis.


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Gene is the basic unit of heredity. The DNA or RNA sequence that carries genetic information, through replication, transmits the genetic information to the next generation and directs the synthesis of proteins to express the genetic information carried by itself, thereby controlling the expression of individual traits. Genetic testing is a technology that detects DNA through blood, other body fluids, or cells. It is a method of detecting and analyzing the gene type and gene defects it contains and whether its expression function is normal so that people can understand their own genetic information, clarify the cause or predict the risk of a certain disease in the body.

Genetic testing can diagnose disease and can also be used to predict disease risk. Disease diagnosis is the use of genetic testing techniques to detect mutated genes that cause inherited diseases. The most widely used genetic testing is the detection of neonatal hereditary diseases, the diagnosis of genetic diseases, and the auxiliary diagnosis of some common diseases.

There are generally three genetic testing methods: biochemical testing, chromosomal analysis, and DNA analysis.

1. Biochemical detection

Biochemical testing is the chemical detection of blood, urine, amniotic fluid, or amniotic cell samples to check for the presence of related proteins or substances and to determine whether there is a genetic defect. Used to diagnose a genetic defect caused by an imbalance in a protein that maintains the body's normal function, usually by measuring the amount of the test protein. 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 chromosome. Often used to diagnose abnormalities in the fetus.

A common chromosomal abnormality is an extra chromosome, and the cells used for testing come from a blood sample or, in the case of a fetus, by amniocentesis or chorionic villus sampling. Stain it to make the chromosomes stand out, and then use a high-powered microscope to see if there are any abnormalities.

3. DNA Analysis

DNA analysis is mainly used to identify inherited diseases caused by abnormalities in a single gene, such as Huntington's disease. Cells for DNA analysis are derived from blood or fetal cells.

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