Types of Genetic Testing

Genetic testing

Genetic testing is a medical test that is used to identify the changes in chromosomes, genes, or proteins in the body. With the help of genetic tests, one can confirm or rule out a genetic condition that is suspected of causing changes is a person’s body. It can determine anybody conditions that are caused due to genetic disorders. There are over a thousand genetic tests that are in use for medical purposes.

There are several methods for genetic testing that are being used today. The molecular genetic tests study short lengths of DNA to identify the mutations or variations that cause a genetic disorder. The chromosomal genetic tests study the long lengths of DNA of the whole chromosomes, which cause genetic conditions. The biochemical, genetic tests are done to study the amount and activity level of proteins and changes in DNA that cause a genetic disorder.

Genetic testing is a voluntary choice as there are several benefits and drawbacks of the tests. A geneticist or a counsellor can help in informing one about the pros and cons while also explaining the types of genetic tests and how they help. Here are the five types of genetic testing that are available today.

Newborn Screening

Genetic Testing


This test is done directly after birth to identify any genetic disorders that may exist so that they can be treating early in life. While most of the newborn screenings are done to check for any genetic disorders related to intellectual ability, many states also allow other tests for genetic disorders on kids.

Diagnostic testing

This test is done on the patients to identify the root of a specific genetic problem. It can identify or rule out a genetic or chromosomal condition. In most cases, the tests are done to confirm a diagnosis when a particular condition is said to exist in a person. The condition is suspected based on physical signs and symptoms. This test can be performed before birth and during the lifetime, but it is not available for all genes.

Carrier testing

Carrier testing is done on people to identify a gene mutation which, when gets combined with two copies of genes cause a genetic disorder. This test is meant especially for the families who have a history of genetic disorders. The people with specific genetic conditions while being a part of an ethnic group can also take this test. The parents who take this test can determine the genetic conditions that their child may have.

Prenatal testing

Prenatal testing

This test is used to determine the fetus’s genes or chromosomes before birth. It is done during the pregnancy if there is a risk that the baby can have genetic disorders. This can help the parents make decisions about pregnancy.

Forensic testing

This test is done by using DNA sequences to identify an individual under the legal authority. Forensic testing is done to identify victims of a crime or disaster, to rule our a crime suspect, or to establish biological relationships between people. It is not done for detecting the gene mutations associated with disorders.



Types of Genetic Testing

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