What's it like: To get genetic testing

What's it like: To get genetic testing
by Jaclyn Cosgrove Published: August 18, 2013

Why do genetic testing?

A genetic test is generally performed so a person can find out if they suffer from a specific disease or condition.

DNA serves as the body's instruction manual. Nearly every cell in a person's body has the same DNA. Genes are segments of DNA found in chromosomes, and they control growth and help you stay healthy.

A genetic test is sometimes run to help find a gene that's damaged or missing something. The test can help determine whether you are suffering from a chromosomal defect, including whether you're missing or have an extra chromosome, or maybe if small bits of chromosomes are missing.

Parents of a child with an intellectual disability or a facial characteristic that isn't typical to child development might bring their child in for a genetic test. Sometimes, pregnant mothers have genetic testing run to determine whether their child might develop a birth defect or rare disorder.

Also, families with high rates of cancer in their history might undergo genetic tests to determine what risk there is of passing genes onto the next generation.

What happens?

To begin, you'll meet with a team of medical professionals trained in genetics testing. You'll be asked questions about your family history, so it's important to come prepared.

Generally, a medical professional will take a blood sample. If the genetic test is for a pregnant mother, a doctor might collect fluid from the mother's abdomen. This process is known as amniocentesis, where a needle is used to collect fluid near the uterus. This is done with guidance from an ultrasound that shows where the baby is inside the mother's womb.

There are several types of tests that a genetics testing lab can run. Generally, the most popular types of tests are chromosome tests, in which whole chromosomes or very long lengths of DNA are tested; gene tests, in which individual genes or relatively short lengths of DNA or RNA are tested; or biochemical tests, in which protein levels or enzyme activities are tested.

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by Jaclyn Cosgrove
Medical and Health Reporter
Jaclyn Cosgrove writes about health, medicine and fitness, among other things. She graduated from Oklahoma State University with a news-editorial and broadcast production degree. Outside of work, she enjoys riding her bike, taking pictures of...
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