Genetic testing what is it

Genetic testing looks for changes in your DNA that can inform your medical care. Talk to your doctor about whether genetic testing is right for you. Genetic testing looks for changes, sometimes called mutations or variants, in your DNA. Genetic testing is useful in many areas of medicine and can change the medical care you or your family member receives. For example, genetic testing can provide a diagnosis for a genetic condition such as Fragile X or information about your risk to develop cancer.

There are many different kinds of genetic tests. Genetic tests are done using a blood or spit sample and results are usually ready in a few weeks. Because we share DNA with our family members, if you are found to have a genetic change, your family members may have the same change.

Clinical genetic tests are different from direct-to-consumer DTC genetic tests, which can give some information about medical and non-medical traits.

Clinical genetic tests are ordered by your doctor for a specific medical reason. Results of a clinical genetic test become part of your medical record. Research genetic test: You volunteer to participate in a research study, and the results are not put in your medical record.

How is a genetic test performed? Step 1— In the doctor's office: Your doctor or genetic counselor will talk to you about the test, what it may or may not tell you, insurance coverage, and risks of insurance discrimination You may have to sign a consent form depending on the lab performing the test. Your doctor or nurse will get a sample from you. Samples are usually blood samples, but sometimes can be saliva, skin, fluid around the baby during pregnancy, or tumor.

You may be asked to give another sample if the first sample does not work. The sample is sent to the lab. To find the cause of a disease, the lab can use different ways to look at all or part of your DNA.

The way the lab looks at your DNA will depend on the type of genetic test your doctor ordered. The human genome is made of DNA and contains all of a person's genetic information like a set of books.

Hadley, M. Featured Content. Introduction to Genomics. Genetic testing involves looking for changes in: Genes : Gene tests study DNA sequences to identify variations mutations in genes that can cause or increase the risk of a genetic disorder. Chromosomes : Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.

Proteins : Biochemical genetic tests study the amount or activity level of proteins or enzymes; abnormalities in either can indicate changes to the DNA that result in a genetic disorder. Topics in the Genetic Testing chapter What is genetic testing? What are the different types of genetic tests? What are the uses of genetic testing? How is genetic testing done? What is informed consent?