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SUDC Insights

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SUDC Insights is the official blog of the SUDC Foundation which shares and discusses issues important to the understanding and the ultimate prevention of SUDC. If you have questions or issues you would like to see addressed in SUDC Insights, please let us know at sudcinsights@sudc.org.

Understanding Genetics Part 2: “I had Genetic Testing”, Understanding the Types of Genetic Testing Available

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The field of genetics is growing rapidly and it can be hard for the consumer to keep up with all the changes and discoveries that we are learning and how much we still don’t understand.

This is part 2 of my series on “Understanding Genetics”. Today, I would like to introduce you to what genetic testing is and the different types of genetic testing available today.

Genetic testing is a type of test that identifies changes in chromosomes, genes or proteins. The results of a genetic test can confirm a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. They can also establish biological relationships between individuals. More than 1,000 genetic tests are currently in use with more being created every day.

Some available types of testing include Newborn screening, Carrier, Prenatal, Forensic, Diagnostic and Predictive testing.

Newborn screening is used just after birth to identify genetic disorders that can be treated early in life.

Carrier testing is used to identify people who carry one copy of a gene mutation that when present in two copies causes a genetic disorder. Generally, a family history of the disorder is present.

Prenatal testing is used to detect changes in a fetus' genes or chromosomes before birth. This type of testing is offered during pregnancy if there is an increased risk that the baby will have a genetic or chromosomal disorder.

Forensic testing uses DNA sequences to identify an individual for medico-legal purposes. Unlike the other tests being described, forensic testing is not used to detect gene mutations associated with disease.

Diagnostic testing is used to identify or rule out a specific genetic or chromosomal condition. In many cases, genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms.

Predictive types of testing are used to detect gene mutations associated with disorders that appear after birth often later in life. These tests can be helpful to people who have a family member with a genetic disorder but who have no features of the disorder themselves at the time of testing. Predictive testing can identify mutations that increase a person's risk of developing disorders with a genetic basis, such as certain types of cancer.

Most genetic testing can be performed before birth or at any time during a person's life. The results of genetic testing, can influence a person's choices about health care and the management of a disorder or potential of one.

If you have questions about whether a particular test is right for you, you should consult your physician, geneticist or a genetic counselor.

To read part 1 of understanding genetics:

https://sudc.org/education-resources/our-blog-sudc-insights/understanding-genetics

For more information please visit our website below research & medical information section.

https://sudc.org


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