Genetic testing analyzes DNA to identify changes in genes, chromosomes, or proteins. There are several types of genetic tests, each with a specific purpose. These tests are essential for understanding hereditary conditions, determining disease risk, and guiding medical treatment.
Types of Genetic Tests
Genetic testing methods vary depending on the number of genes they analyze and the specific types of changes they are looking for.
Targeted Single Variant Tests
- Description: These tests look for a single, specific genetic variant within a particular gene.
- Use Case: Useful when a specific mutation is already known to be linked to a condition. For instance, testing for a particular BRCA1 mutation in individuals with a family history of breast cancer.
- Reference: According to MedlinePlus, "Single variant tests look for a specific variant in one gene."
Single Gene Tests
- Description: Single gene tests analyze an entire gene for any genetic changes or variants.
- Use Case: These tests are ideal when a specific gene is associated with a disease, but multiple variants are possible. An example could be testing the CFTR gene for all potential mutations associated with cystic fibrosis.
- Reference: As noted by MedlinePlus, "Single gene tests look for any genetic changes in one gene."
Gene Panel Tests
- Description: Gene panel tests evaluate multiple genes at once.
- Use Case: They are often used when a condition can be caused by variations in several different genes. A common use case is comprehensive cancer risk assessments involving several genes related to cancer predisposition, like BRCA1, BRCA2, ATM, and TP53.
- Reference: MedlinePlus explains that "Panel tests look for variants in more than one gene."
Summary Table
| Test Type | Description | Use Case |
|---|---|---|
| Targeted Single Variant | Looks for one specific variant in one gene. | To confirm or exclude a known mutation linked with a condition. |
| Single Gene | Looks for all genetic changes in one gene. | When multiple variants are associated with a disease for a specific gene. |
| Gene Panel | Analyzes multiple genes at once. | When several genes can cause a particular condition or disorder. |
These different types of genetic tests help in diagnosing hereditary conditions, assessing the risk of diseases, and guiding medical treatments.
