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Genetic testing: What your DNA can tell you

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With the advent of new technological advances, genetic testing to predict disease is more important than ever.

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In fact, your family physician may refer you to a genetic counselor for genetic testing for a variety of reasons including:

  • You have an infant, or may have adopted a child, who may be at risk for a certain inherited disease.
  • You are a healthy individual concerned about heritable ailments in your family history such as certain cancers and sickle cell anemia.
  • You are an affected person looking for information to support a recent diagnosis.
  • You are a pregnant woman over the age of 35 who is concerned about your unborn child’s medical future.
  • You have a family history of a hereditary disorder that is recessive, and you are planning to have a child.

Whether you visit a genetic counselor or use an at-home kit, there are simple ways to help you determine the paternity of a child -- and help shed light on any genetic predispositions for disease.

Use the infographic from www.Gtldna.com and this handy testing guide to help you gain the basic knowledge of how genetic testing can give you an important look into you, or your child’s, own genetic makeup.

Three Types of Genetic Testing

Since many do not have record of their family health history, which throughout history has served as a signifier of predisposition to a variety of diseases, genetic testing can provide valuable information on one's genetic predisposition toward a variety of diseases.

According to the GGC, there are three types of genetic tests to examine your DNA to see if a disease-causing gene is present. These tests include: general testing, prenatal testing and newborn screening.

1. General Testing – The alleles that produce genetic disease are found in the DNA of every human being. Unfortunately, most people do not know how many alleles they carry and the types of diseases thy may be predisposed for. A simple, at-home DNA testing kit can tell you if you are a carrier of the disease.

Most tests involve swabbing the inside of your cheek or using a blood sample to confirm the presence of one or more alleles. While at-home genetic testing provides a snapshot of your DNA, a physician or a genetic counselor should confirm the tests results.

2. Prenatal Testing – Prenatal diagnosis is used for women over the age of 35 who are pregnant. This type of testing allows a couple to make appropriate treatment decisions concerning the care of the child during pregnancy and after the baby is born.

The two most common tests are amniocentesis and chorionic villus sampling. To administer the proper genetic testing techniques and confirm a genetic diagnosis, the physician must obtain fetal tissue.

Chorionic villus sampling (cvs) is done in the first three months of pregnancy. This test is extremely accurate and the results are produced quickly. Amniocentesis is performed in the 2nd trimester of the pregnancy. The amniotic fluid surrounding the fetus is tested for genetic abnormalities. It takes one to two weeks to gain the test results from the fetal cells found in the fluid and the results are very accurate.

3. Newborn Screening - Some genetic disorders are treatable using a restriction of a newborn’s diet. Because of this important knowledge, all newborns in the U.S. are tested for these two autosomal recessive disorders: galactosemia and phenylketonuria.

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