Genetic Testing
Source: MedlinePlus Health Topics, U.S. National Library of Medicine
What is genetic testing? Genetic testing is a type of medical test that looks for changes, sometimes called variants or mutations, in your DNA . DNA contains the genetic instructions in all living things. Often, these changes have no effect, but sometimes, even a small change in DNA can cause disease or other health conditions. Genetic tests take a sample of your blood or tissues and check your cells to look for any changes in: Genes are parts of DNA found in your cells that carry information that controls what you look like and how your body works. Many genes tell your body how to make proteins, which are needed for your body to work correctly. Genome sequencing is a process that checks all your DNA. Exome sequencing is a process that only checks the parts of your DNA that provide instructions to make proteins. Proteins do most of the work in your cells. If there are changes in the amount and activity level of proteins, they might be due to changes in the genes that produce those proteins. Chromosomes are thread-like structures in your cells. Each chromosome is made up of DNA tightly packaged around proteins. People usually have 23 pairs of chromosomes that contain all their DNA. What are the different ways to get genetic tests? Most of the time, genetic testing is done through your health care provider. This is called clinical testing . It is done to find out about an inherited disorder (passed down through families) and to help make decisions about your care. Other ways to get genetic testing include: Research-based testing is a genetic test done as part of a research study (clinical trial). Direct-to-consumer (DTC) testing is a genetic test that allows you to send a DNA sample and get the results. You may do this to learn about your ancestry or your risk for certain diseases. Why is genetic testing done? Genetic testing may be done for many different reasons, including to: Find genetic diseases in a fetus. This is a type of prenatal testing . Screen newborn babi