BRCA testing is a specialized genetic analysis that identifies inherited variations, or mutations, within the BRCA1 and BRCA2 genes. These genes normally function as tumor suppressors, helping to repair damaged DNA and maintain cellular stability. A harmful mutation compromises this repair mechanism, significantly increasing an individual’s lifetime risk for developing cancers, most commonly breast and ovarian cancer, but also prostate and pancreatic cancers. Laboratories perform this analysis on a DNA sample, typically collected via a blood draw or saliva sample, to guide preventative care and treatment decisions.
Major Commercial Testing Providers
The landscape of clinical genetic testing is dominated by a few large commercial laboratories that process the vast majority of BRCA tests. While the market was once monopolized, it is now highly competitive, leading to expanded access and more options for patients. These commercial labs offer services ranging from targeted testing focused solely on BRCA1 and BRCA2 to comprehensive multigene panels.
Many providers utilize broader panels, which analyze BRCA genes alongside dozens of other genes associated with hereditary cancer risk, such as ATM, CHEK2, and PALB2. Major entities like Myriad Genetics and Ambry Genetics provide extensive testing menus and variant classification expertise. The combination of Invitae with Labcorp has further consolidated the market, creating another major entity offering widespread genetic testing services.
Other large diagnostic companies, including Exact Sciences, also offer hereditary cancer testing. These laboratories compete on cost, turnaround time, and the accuracy of their variant classification. Accurate classification—determining if a genetic change is benign, pathogenic, or uncertain—is a crucial factor in providing clinically actionable results.
The Process of Accessing Testing
Accessing clinical BRCA testing begins with a healthcare provider, typically a physician or genetic counselor, ordering the test. Pre-test genetic counseling is strongly recommended, where a specialist reviews the patient’s history to determine if they meet testing criteria. This session helps the patient understand the potential results and medical implications before the sample is collected.
Once the sample is sent to the laboratory, results are usually returned to the ordering provider within a few weeks, followed by post-test counseling to interpret the findings. This clinical pathway is distinct from direct-to-consumer screening, as clinical testing is intended for medical decision-making in a regulated environment. A genetic counselor or physician is also instrumental in navigating the financial aspects of testing.
Insurance coverage for BRCA testing is governed by established medical criteria, such as those set by the U.S. Preventive Services Task Force. Under the Affordable Care Act (ACA), many health plans must cover the full cost of counseling and testing for women who meet specific personal or family history criteria. For individuals who do not meet these guidelines, coverage may still be available, though deductibles or copayments may apply.
Ensuring Accuracy and Laboratory Accreditation
The reliability of a BRCA test result depends on the laboratory’s operational quality and adherence to strict regulatory standards. In the United States, any facility performing clinical testing on human specimens must comply with the federal Clinical Laboratory Improvement Amendments (CLIA) regulations. CLIA certification ensures a lab meets minimum standards for personnel qualifications, quality control, and patient test management.
Laboratories performing high-complexity molecular diagnostics, such as BRCA analysis, often seek additional accreditation from the College of American Pathologists (CAP). CAP accreditation is a rigorous, peer-based program that exceeds minimum federal requirements, involving detailed checklists and mandatory on-site inspections. This dual certification (CAP/CLIA compliance) is widely considered the gold standard for clinical genetic testing.
Accreditation verifies that the laboratory follows standardized procedures for every step, from sample handling and DNA sequencing to the final reporting of the genetic variant. Selecting a laboratory with these credentials provides assurance that the results are valid and reliable. This reliability is necessary to support serious medical decisions, such as prophylactic surgery or targeted therapy selection.