What is Genetic Testing?

Pathogen Genetic Testing

This type of testing detects and analyzes the nucleic acids of exogenous pathogens that cause infections in humans (e.g., tuberculosis bacteria, hepatitis C virus).

The content of pathogen genetic testing varies depending on the purpose of the test.

Testing for Diagnosis and Early Diagnosis

• Detection and identification of pathogenic microorganisms
• Detection and identification of pathogenic toxins
• Extraction and quantification of viral nucleic acids

These tests are mainly performed using the PCR method.

Testing for Treatment Purposes

• Drug resistance gene testing
• Viral nucleic acid quantification testing
• Genotyping
• Detection of genetic mutations

In addition to PCR, these tests may also use sequencing methods.

Epidemiological Testing to Identify Infection Sources and Transmission Routes

• Pathogenic E. coli O157, etc.

The PCR method is primarily used for these tests.

Somatic Cell Genetic Testing

This testing detects specific genetic structures of cancer cells and identifies changes in gene expression or lesions. Somatic cell genetic testing is characterized by the fact that it is not hereditary. Somatic cells are the cells that make up the entire body. Cancer arises when some of these cells undergo changes in their DNA.

Genetic testing for cancer, covered by insurance, is commonly performed in hospitals nationwide. These tests help diagnose cancer, determine the effectiveness of drugs, and assess the likelihood of side effects. Genetic testing is performed on biopsy or surgically removed cancer tissues.

In recent years, commercial genetic testing kits have become easily accessible.

Cancer Diagnosis

• Definitive diagnosis and prognosis of diseases
• Selection of treatment methods, such as molecular-targeted therapy
• Assessment of treatment effectiveness

Effectiveness of Drugs

For cancers such as breast, lung, colon, and stomach cancer, genetic testing on biopsy or surgically removed cancer tissues can determine the effectiveness and response to drugs.

Commercial Genetic Testing

These tests check for predispositions to cancer and lifestyle-related diseases.

Germline Genetic Testing

This testing is used for prenatal diagnosis, diagnosing single-gene and multifactorial genetic disorders, and in transplantation medicine. Germline genetic testing is characterized by its hereditary nature. Germline genetic testing results remain unchanged throughout an individual's life.

There are tests for genetic mutations that remain unchanged throughout a person's life and tests for genetic information passed on to the next generation. These include genetic tests and chromosome tests.

Genetic Testing

• Diagnosis of single-gene disorders
• Genetic testing for familial traits

Chromosome Testing

• Changes in chromosome number or structure