Genetic tests are a type of medical test used to identify changes in genes by analyzing DNA. They are a valuable tool for prevention, treatment personalization, diagnosis, and many other functions. There are different types of genetic tests that can be classified based on their functionality.
Types of genetic tests based on their functionality
According to the purpose of the test, genetic tests can be classified into several categories, including:
- Genetic Diagnostic Test: Identifies genetic mutations that cause an already manifested disease. These tests are used to confirm or rule out a diagnosis in patients showing specific symptoms, such as in the case of monogenic diseases.
- Carrier Test: Detects whether a healthy person is a carrier of a genetic mutation that could be passed on to their children and cause a recessive genetic disease, such as cystic fibrosis or sickle cell anemia. This type of test is usually performed before planning a pregnancy on both parents.
- Predisposition or Preventive Test: Evaluates the risk of developing a disease in the future, with the goal of optimizing monitoring and medical check-ups to enable early intervention if the disease manifests.
- Pharmacogenetic Test: The response to medications varies greatly between individuals. This type of test helps understand how a person may respond to certain medications, allowing for personalized treatment adjustments.
- Health and Wellness Test: Provides information on genetic traits related to nutrition, exercise, or aging. These tests are useful for optimizing lifestyle and general well-being in a personalized way.
- Paternity Test: Through DNA analysis, it is possible to determine whether there is a biological relationship between an alleged father and a child. This type of test analyzes and compares the DNA of both individuals to find genetic matches that confirm or rule out paternity.
- Forensic Tests: Used for the identification of an individual. This type of test is based on DNA analysis and is used for legal purposes such as criminal investigations.
Types of genetic tests based on the technology used
From the perspective of genomic technology used, we can identify two main types of tests:
- Genotyping: This technique analyzes specific genetic variants (called single nucleotide polymorphisms or SNPs) in DNA. Instead of sequencing the entire genome, genotyping examines certain areas known for their population variability, health relevance, physical characteristics, or disease risk. This approach is more economical and faster than whole-genome sequencing and is used in health and wellness tests, genetic predisposition tests, and ancestry studies, among others. While it provides a solid base of genetic information, genotyping has limitations, as it focuses on specific variants.
- Whole Genome Sequencing (WGS): This advanced technology allows for a complete analysis of a person's DNA, covering 100% of their genetic sequence. Coding regions (exons) are particularly relevant in medical genetics, as they contain the instructions needed to produce proteins that perform key functions in the body. Additionally, this technology examines regions that regulate the expression of these proteins, which can also influence disease risk and genetic regulation. Due to its comprehensive scope, this technology is used for all types of genetic tests mentioned above, including those with clinical applications such as diagnostic and carrier tests.
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