Genetic Testing

Genetic testing is a tool that helps patients take a deeper look into their DNA makeup. This can reveal whether you or your offspring may have a mutation in your genome. These mutations are oftentimes the cause of many illnesses a patient experiences in their lifetime. Although having a mutation may be considered concerning, it does not always mean that you will develop a disease.

When you are suspected to be suffering from a disease that likely has a root in your DNA, your provider may ask you to undergo a process called genome sequencing. In this process, a sample is taken from you. Your DNA is uncoded to reveal if your genes may be the reason for your condition.

Everyone’s genome is unique, but examining your DNA may contribute a better insight into your condition. This can be especially helpful to mothers and couples looking to conceive healthy offspring.

obgyn talking to woman

Types of Genetic Testing

Genetic testing is utilized for many different circumstances. As noted, before it can be used to diagnose an illness, prevent pregnancy loss, and help couples find out if naturally conceiving a child would harm their offspring or not. Here are a few tests you may be expected to undergo, depending on your circumstances:

  • Carrier testing – This test is often used by couples who are planning on conceiving but want to see if their genes are compatible.
  • Prenatal testing – When you are pregnant and your provider suspects there may be something wrong with the fetus, a prenatal test will be conducted. This is how most babies with down syndrome are diagnosed.
  • Newborn screening – All newborns in the U.S are required to be tested for genetic conditions soon after birth to provide adequate and quick care for children who do in fact have them.
  • Preimplantation screening – This test in conducted on embryos before implantation during IVF.
  • Diagnostic testing – This is when you will be tested for mutations in your genome that are likely causing your current illness.
  • Presymptomatic testing – If you have a family history of a specific illness, this is when you test for a disease before it occurs. It is a preventative measure.

How is Genetic Testing Conducted?

The genetic test will widely depend on the type of genetic test you will be undergoing and for what reason. You can be expected to give or undergo:

  • Blood sample – This will be done by basic phlebotomy, by inserting a needle into the vein to collect blood.
  • Cheek swab – A swab is taken from both of your cheeks to collect cells that have your DNA.
  • Chorionic villus sampling – A sample of your placenta while is your pregnant is collected by inserting a very small needle into your uterus, either through the cervix or abdomen. This is done for prenatal testing.
  • Amniocentesis – A small hollow needle is inserted through your abdomen wall into your uterus to collect amniotic fluid for prenatal testing.

You may receive either positive, negative, or even inconclusive results. A positive would indicate the presence of a genetic condition, while a negative indicates the absence of said condition. In the case your result is inconclusive, you may need to talk to your provider about further steps which may include follow-up testing.

Genetic Testing Services in Palatine, Schaumburg, Hoffman Estates, Barrington & Bartlett, IL

For more information, call Women’s HealthFirst at (847) 808-8884 or request your appointment now. We have five locations near Chicago, Illinois, to serve you. Established patients are encouraged to visit the convenient online patient portal to request an appointment, message our team, update their records, and more.