What Is Genetic Testing And Why Is It Used?

By Author: Suborna Fermi
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Genetic testing is widely known as a kind of medical test that is mainly performed for the purpose of evaluating changes in genes, chromosomes or proteins. Genetic tests are performed for a wide variety of purposes and currently there are several types of genetic testing facilities available in the market. Let’s delve deeper to find out more about what genetic testing is and how it is being used all over the world.

What is gene and what are its functions?

In simple terms, genes are units of heredity made of DNA. DNA tells your cells which proteins to make. Genes are responsible for a wide range of biological functions and also, carrying information. It remains packaged into your chromosomes. Genes instruct our body cells for processes or characteristic traits, the traits that are carried by genes from the ancestors as well as every other individual connected to a specific bloodline.

What are some types of genetic tests?

As mentioned earlier, genetic tests are purposed for detecting changes in your chromosomes, genes and DNA. ...
... Such tests are often performed or recommended to gain detailed insights about an individual’s genetic makeup. It can help to know whether you are at a high risk for developing any particular condition inherited from your bloodline or not. It may also help to detect any particular altered gene in an individual that may be passed to the next generation. An appropriate guidance from a genetic counselor will help you choose the right genetic test for you.

Some common types of genetic tests are mentioned and evaluated below for you.

Gene testing: Gene testing is meant for examining an individual’s gene to detect changes and explore that individual’s chances of developing certain genetic diseases. The targeted variant tests look for change in that one particular gene that is responsible for causing any specific disorder. On the other hand, the genetic testing panels look for changes in more than one gene.

Genomic testing: There are two types of genomic testing known as whole genome sequencing and whole exome sequencing. If the other genetic tests fail to find the genetic reason behind the condition that you are suffering from then the medical professionals may recommend going for a genomic testing.

Chromosomal testing: The main purpose of performing this test is to study an individual’s chromosomes. This test checks for changes in the chromosomes instead of the genes. This test may help to find an extra copy of chromosomes or a missing piece of chromosomes easily.
Gene expression testing: Studying the activity levels of the active genes is the prime purpose of this test. A few conditions including cancer may take place if any particular gene is underactive or hyperactive.

What are the genetic tests used for?

Genetic tests are known for having a wide variety of uses. We will mention some of those below.

Prenatal Testing: The main purpose of prenatal genetic tests are to detect genetic and chromosomal changes in the fetus. It can help the doctors determine whether a baby is about to take birth with some genetic problems or not.

Diagnostic testing: Detecting specific chromosomal problems or genetic disorders in any individual is the prime purpose of performing this particular type of genetic testing. However, it may not be the right solution for all types of genetic conditions.

Carrier Screening: If an individual is carrying any autosomal recessively inherited condition then it means that the individual may be the carrier of that condition without experiencing any of its symptoms. If both of the partners carry it, then there remains a 25% chance that the condition may be passed on to the next generation. This testing is usually offered to all such individuals who are planning a pregnancy or a partner who is at the very first stages of pregnancy.

Newborn Screening: Newborn screening is also an important category of genetic screening which is purposed to test for specific metabolic, genetic or hormonal conditions. This test can be performed to all the newborns right after birth so that the conditions can be detected during their earlier stages and the treatment procedures can be started at the right time.

Pharmacogenic testing: This type of genetic testing looks for changes in an individual’s genetic makeup which decides how the body will process certain medications. It’s the most effective way to know whether a medicine will work perfectly on an individual or not.

Pre-symptomatic and Predictive testing: The main purpose of this particular category of genetic testing is to check for genetic changes that make you more likely to face certain genetic conditions including some types of cancer later at any stage of your life. This test can even tell whether an individual will develop any particular genetic disease even before the symptoms show up.

Apart from all these, there is also another type of genetic testing called preimplantation testing which is purposed for finding genetic changes in the embryos that can be made using assisted reproductive techniques.

Each of these categories of genetic testing serves their own purpose and all the tests are equally important. Currently, these advanced genetic testing facilities are available in so many cities in the country, which will help you or your newborn baby get genetic issues detected during the earlier stages.

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