What is Genetic Testing?

Genetic Testing is a process that allows a person to see if they are susceptible to certain inherited diseases such as various cancers or Huntington's disease. Genetic testing is also used to determine a child's genetic father, as we have seen in many high-profile celebrity paternity tests. Genetic testing can also help in determining a person's ancestry. It is important to understand your specific reason for wanting genetic testing before you make the decision to move ahead.

You may want to do Genetic testing if there is a family history of a certain condition. This is called Predictive Gene Testing and is used to look for specific gene mutations that might indicate the condition. This type of genetic tests can be used to find conditions such as breast cancer in women.

Another type of genetic testing is called Carrier testing and is used by couples, at risk for certain diseases and planning for parenthood, to perform genetic testing before they become pregnant. This types of testing is generally looking for diseases such as cystic fibrosis, sickle-cell anemia, or Tay-Sachs disease.

Before babies are even born, they can have a genetic test called Prenatal Diagnosis. The most common primary condition being tested for is Down Syndrome. Newborn Screening can also be performed and is the most widespread type of genetic testing usually testing for cystic fibrosis or sickle cell anemia.

Sometimes people choose genetic testing after they become symptomatic of a particular condition. This is called Late-onset Disorders testing and can include adult diseases such as cancer, heart disease and Huntington's disease.

Before genetic testing is performed you will have a consultation with your primary care doctor to discuss your medical history and genetic testing. You may also consult with a medical geneticist or even a genetic counselor. Any of these professionals can order the genetic testing once you have given informed consent to the tests.

There are a variety of techniques for performing genetic testing, the most common and simplest is by just a simple blood test that is done in a medical laboratory. However genetic tests can also be performed using a sample of skin, hair, other tissue or amniotic fluid from a fetus. Depending on the type of testing required the sample can be taken using a cotton swab from the inside surface of your cheek or other multiple methods.

The sample is then sent to the laboratory and it is stu7died to look for specific signs or changes in the chromosomes, DNA or proteins. What the genetic technicians are looking for depends on the suspected condition of the subject. The results will be documented and sent to your primary care doctor or genetic counselor.