What Is Genetic Testing?

Genetic testing is the laboratory analysis of various genetic materials including chromosomes, deoxyribonucleic acid (DNA), or ribonucleic acid (RNA) to look for variations or mutations. Often, genetic mutations can cause disorders or contribute to the likelihood of developing diseases.

That’s why genetic testing is used as a tool to identify people who might be carrying a disease, or who are at a higher risk of particular illnesses or conditions based on their genetic makeup. Some people also use genetic testing for wellness or ancestry purposes.

The Role of Genetic Testing

When it comes to making health decisions or family planning, genetic testing is playing an increasingly larger role as more and more advancements are made in the field.

Genetic tests can be used to diagnose certain diseases. Also, the tests can be used for expecting couples or fetuses to determine the likelihood of inheriting a genetic disorder. It can also help determine the optimal course of treatment for diseases like cancer, find transplant candidates, and determine paternity and other familial relations.

Because certain genetic disorders such as cystic fibrosis are related to having a particular single gene, testing for that gene can help inform the right medical course of action. Other genetic disorders are more challenging to identify because they are linked to multiple genes. 

Who should get testing?

Genetic testing can be appropriate in a variety of situations, such as the following:

  • If you (or your doctor) suspect that you have a genetic condition.
  • If you have a disease for which genetic testing can help determine the course of treatment or which medicines will work best.
  • If one person in a couple has a genetic disease, they may want to test to see if the other partner carries the same gene. If so, this could impact any future offspring.
  • Genetic testing is sometimes done as part of prenatal screening on fetuses so that proper care can be provided after the child is born should any disorders be detected.
  • For certain cancers, having genetic testing for targeted cancer therapy can help determine the best medication or treatment options.

For anything medical-related, consult with your doctors to determine if and how genetic testing can help with diagnosis or treatment. With some disorders or diseases, genetic testing will be standard practice; for others, results can be less definitive.

There are also people who get genetic testing for non-medical reasons such as determining or confirming paternity or other relations.

Even for non-medical genetic tests, it is often beneficial to first consult with a doctor or genetic counselor to make sure that you are informed about the details of the test and the results that it will provide.

Counseling will also help you understand all the potential outcomes of testing, as well as your legal rights.

Types of Genetic Tests

There are many types of genetic tests and testing techniques that may include blood tests, physical exams, oral swabs, urine tests, and stool samples. Here are some of the most common genetic tests:

BRCA test

BRCA Gene Mutation Testing

Paternity test

Paternity Test

NIPS test

Non-Invasive Prenatal Screening (NIPS)

More Genetic Tests

Getting Genetic Testing

This type of testing is usually ordered by a doctor if it’s for a health-related reason. There are some opportunities to test for certain genes using at-home tests as well, but if there are health implications, follow up with a physician.

Costs of genetic testing

The cost of genetic testing ranges widely depending on where you are tested, the test type, your insurance coverage, and the reason for the testing (such as if it’s health-related or for some other purpose).

Lab testing fees can reach up to $1,000 for certain exams. Generally, genetic testing for medical reasons will be more costly than testing for wellness or ancestry. At-home tests, such as those for ancestry DNA, can be as low as $59. For example, the MyHeritage DNA kit is $59.

Types of sample collection

Most genetic tests can be done with a blood sample taken from a vein or using a saliva sample from your mouth. For certain tests, urine, stool, body tissues, bone marrow, or hair may be used. The sample is usually collected in a tube, on a swab, or in a container. A laboratory will then separate the genetic material from the sample.

Getting test results

If you received genetic testing as prescribed by a doctor or genetic counselor, they will share the results and let you know what timeline to expect. Be sure to discuss your test results and ask questions about what they mean and any next steps.

For at-home DNA testing for wellness reasons, you will get results either by mail or by setting up an account online or via an app. You may also be offered the chance to speak with a genetic counselor to get an overview of your results.

Resources

These resources offer additional information about genetic disorders and their symptoms, causes, and treatment:

Sources

See More
Take Control of Your Health

Ask a Laboratory Scientist

Ask A Laboratory Scientist

This form enables patients to ask specific questions about lab tests. Your questions will be answered by a laboratory scientist as part of a voluntary service provided by one of our partners, American Society for Clinical Laboratory Science. Please allow 2-3 business days for an email response from one of the volunteers on the Consumer Information Response Team.

Send Us Your Question