Published On: October 12, 2022Categories: General

A person’s DNA, the chemical database that holds the instructions for how their body should function, is analyzed during genetic testing. Genetic testing can uncover alterations (mutations) in one’s DNA that may be the root cause of a disease or sickness. Genetic testing does have its limits, although it may yield essential information that can be used in diagnosing, treating, and avoiding disease.

For instance, if you are currently in good health, a positive result from testing does not always indicate that you will be diagnosed with a disease in the future. On the other hand, a negative result does not always indicate that a person does not have a particular condition. This is especially true in some circumstances.

Different types of genetic testing and why it’s done

Genetic testing is essential for estimating the likelihood of contracting certain illnesses, as well as for screening purposes and, in some instances, for guiding medical therapy. Numerous forms of genetic testing are performed for a variety of purposes, including the following:

Diagnostic testing

If you experience symptoms of a condition that changes in your genes might cause, sometimes referred to as altered genes, genetic testing can show whether or not you have the suspected ailment. For instance, the diagnosis of cystic fibrosis or Huntington’s disease may be verified by genetic testing in some cases.

Presymptomatic and predictive testing

If there is a history of a genetic disorder in your family, obtaining genetic testing before you have any symptoms may help determine whether or not you are at risk of acquiring that condition. For instance, this kind of test may assist in determining the likelihood that you may get specific forms of colorectal cancer.

Carrier testing

You may get genetic testing before having children if there is a history of a genetic disorder in your family, such as sickle cell anemia or cystic fibrosis, or if you belong to an ethnic group with a high risk of a particular genetic disorder. In either case, the likelihood of passing the disorder to your offspring increases.

An extended carrier screening test may discover genes connected to various genetic disorders and mutations. This test can also determine whether or not you and your spouse are both carriers of the same problems.


This kind of genetic testing may assist decide which drug and dose will be most successful and helpful for you if you have a particular health condition or illness. But, of course, if you have one of these conditions or diseases, you may have it.

Prenatal testing

Some tests may identify genetic flaws in your unborn child if you are pregnant. For example, two genetic conditions often checked throughout prenatal genetic screening are Down syndrome and trisomy 18 syndromes. Examining specific indicators in the blood or undergoing invasive diagnostic procedures like amniocentesis is the traditional method for determining this. Cell-free DNA testing is a more recent method that examines a baby’s DNA via a blood test carried out on the mother.

Newborn screening

This is the sort of genetic testing that is performed the most often. It is required by law in every state in the United States that infants undergo screening for various genetic and metabolic abnormalities that may lead to various illnesses.

This kind of genetic testing is crucial because if the findings reveal an issue, care and treatment may begin immediately. Such disorders include congenital hypothyroidism, sickle cell disease, and phenylketonuria (PKU).

Preimplantation testing

When trying to have a child via in vitro fertilization, some people undergo a preimplantation genetic diagnosis (PGD) test. First, the embryos are examined to see whether or not they have any genetic flaws. Then, in the hopes of having a child, embryos that are healthy and free of defects are placed in the uterus and implanted.