What is genetic testing?
Genetic testing is a type of medical test that identifies changes in genes, inherited from our parents, which we then typically pass on to our children. “Mistakes” in our genes (called “mutations”) can manifest the
disease, and genetic tests may be used to confirm the disease diagnosis.
A genetic test is an analysis of our DNA, genetic material in our cells, that gives us specific features and enables our body to perform various functions. A number of different methods exist for fast and reliable
testing of our DNA, with sequencing (reading the order of DNA building blocks, called nucleotides), and deletion/duplication analysis (detection of large deletions or insertions within DNA/ genes) being the most common. Genetic tests can be roughly categorized in diagnostic and predictive testing.
Diagnostic testingis performed in order to identify the mutation that causes the symptoms. If this concerns a family, this test should be done in one affected, or, if not possible, in relatives who are as close as possible to this affected person, who is called the index patient.
Predictive testingis an examination that is performed when no symptoms are shown yet. Despite the person may carry a mutation and thus has risk of developing symptoms later in life. Predictive testing also includes carrier testing. This is relevant for people who carry a mutation but are not affected by it themselves, although there is a risk for their children to be affected.
Why is genetic testing necessary?
- For a lot of disorders, genetic testing is the only way to make an accurate diagnosis and help avoid additional unnecessary clinical investigations.
- Genetic testing can guide the clinician in choosing the most suitable therapy and support for the patient.
- In some genetic diseases good surveillance and early intervention can save the patient’s life (e.g. early diagnosis of hereditary cancer).
- The results of genetic testing may be useful for future family planning.
To find out more about the benefits of genetic testing, please find detailed information in our downloadable brochure:
or our information flyers:
We are also always available for answering your individual questions. Please do not hesitate to contact us directly at crd(at)centogene(dot)com.
*Please note: Prenatal testing is currently not offered in the US. Please contact us directly.