The Types of Genetic Testing

If you have a family history of a disease, there are several different types of genetic tests that can be performed. These tests are classified according to their use, which may be a predictive, carrier, or diagnostic. 

Predictive genetic tests may also be used to screen the wider family for the presence of a disease. Diagnostic tests, on the other hand, are not specific enough to be used to screen the entire family for the presence of a disease.

1. Diagnostic testing

If you think you may be suffering from a genetic disorder, you may want to get tested. You can buy tests separately, but you need to remember that you may not be able to obtain the best results if you do not follow the recommendations of your doctor. This is why you should discuss the decision with your family. You should also be aware that some health insurance policies do not cover this type of testing, so you should make sure you are fully aware of all the implications.

These days a home DNA test kit is also available. You can try them, too.

2. Predictive testing

Predictive genetic testing is a method used to identify diseases and other risks, usually inherited from parents. It requires identifying specific disease mutations among family members affected by the disease. This method is also known as presymptomatic testing or predisposition testing. Predictive genetic testing can help identify the genes responsible for a certain disease, such as Huntington’s disease, or confirm the faulty heredity of a disease through a family tree.

3. Prenatal screening

Prenatal genetic testing may be offered to expectant mothers to determine whether they are at risk for various genetic disorders. This genetic screening may be performed using an ultrasound or blood samples from the pregnant woman. It may be conducted during the first, second, or third trimester of pregnancy. The results of prenatal genetic tests may help doctors identify a wide range of genetic syndromes and rare diseases. Some tests are standard, while others are optional.

4. Carrier testing for X-linked conditions

A female’s X chromosome contains two copies of a gene that is responsible for hereditary disease. In contrast, males only have one X chromosome. If one of the X chromosomes is faulty, the male will be affected. However, the male Y chromosome carries only one copy of the gene. That’s why carrier testing for X-linked diseases is typically performed on females. 

5. Prenatal testing for cystic fibrosis

The cost-benefit analysis of prenatal genetic testing for cystic fibrosis is still not clear. In most cases, the cost of terminating a pregnancy if the test indicates a child has the disease is the primary benefit. However, many couples decide to use the results of prenatal screening as a guide to planning care for their child. In such cases, the cost-effectiveness of prenatal genetic testing for cystic fibrosis will depend on the plans for the care of the child.

Why is Genetic Testing important?

Many people think that genetic testing is only important for pregnant women or people with a family history of genetic disorders. However, everyone has a unique genetic makeup, and understanding your genes can provide valuable information about your health. 

For example, genetic testing can reveal whether you are at risk for developing certain diseases or conditions. It can also help you make informed decisions about your lifestyles, such as whether to adopt a healthier diet or exercise regimen. 

In some cases, genetic testing can even be used to determine whether you are a carrier of a disease-causing gene. Ultimately, genetic testing can help you and your doctor understand more about your health and take steps to protect yourself from illness.