Different Types of Genetic Tests for Inherited Mutations

Genetic testing is not one-size-fits-all. Different labs offer different types of tests. Choosing the right test is complex. You should consult with a genetics expert before testing to assure that the right test is ordered from a reputable lab. 

Which genes are included?

Some genetic tests look for just one or a few specific gene mutations. Other tests, known as a "multigene panel test," look for mutations in many genes at the same time. It's important to understand which genes are included in the test before your genetic test has been ordered and after you receive your test results, . For more information, visit our page on the genes associated with different types of cancer.

Genetic tests may differ in other ways

• Cost: The cost of a genetic test may depend on the lab performing the test, the type of test ordered, health insurance coverage, and patient eligibility. Insurance will usually cover the cost of genetic testing, but out-of-pocket costs may vary. You can learn more about paying for genetic testing here. 
• Laboratory: Many different labs offer genetic testing. It is important to use a reputable lab that is certified by the College of American Pathologists (CAP) or Clinical Laboratory Improvement Amendments (CLIA). You can view a list of reputable labs below.
• Source of DNA sample: Genetic testing may be performed on blood or a cheek swab (saliva). Both methods are reliable.
• Testing method: Labs may use different methods to test for mutations. The testing method may affect the cost, accuracy and time it takes to get results. Genetic test results usually take two to three weeks. Quicker results may be available for people who need the information to make urgent treatment decisions.   

Using ancestry testing for cancer risk

Many companies offer genetic testing to help people find relatives or learn more about their ethnicity. These tests are sold for recreational purposes only. They are not meant to guide medical decisions.

Some ancestry testing companies may offer limited testing for a small number of mutations in BRCA1, BRCA2 and some genes that are linked to Lynch sndrome. Ancestry tests do not look for many of the other gene mutations that may be linked to cancer. For example, there are almost 3,000 known mutations in BRCA1 and over 3,300 known mutations in BRCA2. Ancestry tests only look for a few of these. Other genes, such as ATM and PALB2 are not included in the current ancestry tests.

The FDA warns people not to use ancestry test results to make medical decisions, and advises individuals to have testing with a clinically certified lab to confirm the results. The agency also emphasizes “it is important for patients to consult their health care professional who can help them understand…their individual cancer risk.”

Filing a complaint against a lab

Agencies oversee the conduct of genetic testing labs in the United States. 

• Clinical Laboratory Improvement Amendments (CLIA)
  • All clinical laboratory testing performed on humans (except in clinical trials and basic research) is governed by the CLIA.
  • If you have concerns or need to file a complaint about a lab that conducted clinical testing, you or your health care provider can file a complaint with your state CLIA contact. 
  • All other questions about the CLIA program should be submitted to [email protected].
• The Food and Drug Administration (FDA)
  • The FDA tracks adverse events and concerns about laboratory tests through MedWatch: the FDA Safety Information and Adverse Event Reporting Program. Patients or providers can report adverse events to the FDA.
    • Patient reporting form 
    • Provider reporting form