Genetic Testing

1 What is a Genetic Testing?

A test that involves examining your DNA is called genetic testing. The DNA is the chemical database that carries instructions for your body’s functions.

This test can reveal alterations and changes in your genes that may cause disease or illness.

There are limitations for this test even if it can provide information for diagnosing, treating and preventing illness.

For example, a negative result does not mean that you will not have a certain disorder or a positive result does not mean that you will develop a disease.

Consult your genetic counselor or doctor about the result of your genetic testing.

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2 Reasons for Procedure

Several types of genetic testing that are done for several reasons include:

  • diagnostic testing – this can reveal if you have a disease that may be caused by genetic alterations such as polycystic kidney disease or Charcot-Marie-Tooth disease
  • presymptomatic and predictive testing – you will have an undergoing testing if you have a family history of a genetic condition
  • carrier testing – you may choose to have genetic testing before having children if you have sickle cell anemia or cystic fibrosis or you belong to an ethnic group, to detect genes related to a wide variety of genetic diseases and mutations you may want to do an expanded carrier screening test
  • pharmacogenetics – this can determine what medications and dosage will be most effective and beneficial for you if you have a particular health condition or disease
  • prenatal testing – these tests can detect types of abnormalities in the baby’s genes such as trisomy 18 or Down syndrome
  • newborn screening – this test is required in all states of the United States and this can check for specific conditions such as congenital hypothyroidism so treatment can begin right away
  • preimplantation testing – this is done if you want to conceive a child using vitro fertilization

The sperm that is collected from a man and the eggs are removed from a woman in vitro fertilization.

They will be fertilized outside of the embryo and this will be screened for genetic abnormalities. If there is no abnormality in the embryo, it will be implanted in the uterus.

3 Potential Risks

There are no risks undergoing a genetic testing.

But the procedures used for prenatal testing carry a small risk of losing the pregnancy (miscarriage) because they require a sample of amniotic fluid or tissue from around the fetus.

4 Preparing for your Procedure

To prepare for genetic testing gather information about your family’s medical history, then you can discuss this with your genetic counselor or doctor.

You may understand more about the risk. You can ask questions regarding your situation.

You may also want to consider talking to your family if you are being tested for a genetic disorder because this test may affect them and so that you can see how they will respond to the test.

Consult with your insurance provider if genetic testing is covered.

Based on your test results, the Federal Genetic Information Nondiscrimination Act (GINA) in the United States helps prevent health insurers or employers from discriminating against you.

5 What to Expect

Here you can find out what to expect from your genetic testing.

A sample of your blood, amniotic fluid, skin or other tissue will be collected to be tested in the laboratory depending on the type of test.

These are:

  • getting blood sample by inserting a needle into a vein in your arm
  • cheek swab that is done by getting a sample inside of your cheek
  • amniocentesis which is a prenatal test that is done by inserting a needle through your abdominal wall and into your uterus to get a sample of amniotic fluid
  • chorionic villus sampling by the use of a catheter and thin needle to get a sample from the placenta

6 Procedure Results

Depending on the type of genetic test that you had and the facility is the amount of time it takes for you to receive the results. Consult your doctor about when can you expect the results.

The genetic alteration that was being tested for was detected if the genetic test result is positive. Depending on the reason you underwent genetic testing is the steps you take after you receive a positive result.

A positive result will help you and your doctor determine the right treatment and management plan if the purpose was to diagnose a specific disease.

Your doctor will help you determine your child's risk of actually developing the disease if you were tested to find out if you are carrying an altered gene that could cause disease in your child.

A positive test doesn't necessarily mean you will get that disorder if you were having gene testing to determine if you might develop a certain disease. Consult your doctor regarding your results.

Results can help you make choices related to family planning, careers, and insurance coverage or you can make lifestyle changes that may decrease your risk of developing a disease.

Negative results mean that there is no genetic alteration that is detected in the test but it does not guarantee that you do not have an alteration.

For example, people who don't have a breast cancer gene (BRCA1 or BRCA2) can still develop breast cancer. In some cases, there are inconclusive results that do not provide helpful information.

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