Testing for BRCA1 and BRCA2 is usually done on a blood sample taken in your doctor’s office and sent to a commercial laboratory or a research testing facility. Most people have it done by a commercial lab. During testing, the genes are separated from the rest of the DNA, and then they are scanned for abnormalities.
Often, the type of genetic testing that's done and the specific genes being tested dictate whether testing in a research setting is possible. Research labs tend to perform free and anonymous testing. But they may provide limited results or require multiple family members to participate. In addition, testing results may not be available for many months or years, and sometimes they're not available at all.
In the United States, Myriad Genetics performs all commercial BRCA1 and BRCA2 testing. They report results within a month. (Abnormalities in other genes have been associated with breast cancer risk. Right now, these appear to be a less common cause of breast cancer than BRCA1 and BRCA2 mutations, although research is ongoing. If you want to be screened for those, talk to your doctor and genetic counselor about where to be tested.) The cost of the BRCA test ranges from about $300 to $3,000, depending on whether you get the limited test, in which only a few areas of the gene are evaluated, or the full test, in which hundreds of areas are examined on both genes.
BART (shorthand for the BRAC Analysis Large Rearrangement Test) is another test done with BRCA1 and BRCA2 testing. BART looks for five abnormalities called large rearrangements. These large rearrangements are responsible for a small percentage of changes in BRCA1 and BRCA2 genes. If you’ve been diagnosed with breast cancer and have a strong family history, Myriad Genetics includes BART as part of your BRCA1 and BRCA2 testing. If you don’t have a strong family history of breast cancer, BART is run if your BRCA1 and BRCA2 test results are negative.
Find out if your insurance plan will cover genetic testing — many insurance plans do. The 2008 Genetic Information Nondiscrimination Act protects against discrimination by insurance plans based on an individual’s genetic information. However, if you're still concerned about your privacy, you may pay for the testing yourself and submit your blood sample under a code number or an assumed name. If you opt for the latter, choose a name you can remember easily — and stick to it.
In 1988, the U.S. Congress passed the Clinical Laboratory Improvement Amendments (CLIA) to ensure quality standards and the accuracy and reliability of results across all testing laboratories. Genetic testing should be performed by a CLIA-approved facility. (Myriad Genetics is CLIA-approved.)