Testing for BRCA1 and BRCA2 mutations requires a simple blood draw or saliva sample, but the path to getting tested involves a few important steps: determining whether you’re a candidate, meeting with a genetic counselor, choosing the right type of test, and understanding your results. The whole process from initial consultation to results typically takes several weeks to a few months.
Who Should Get Tested
BRCA testing isn’t recommended as a routine screening for the general population. It’s designed for people whose personal or family history suggests they may carry an inherited cancer susceptibility. Several specific factors raise that likelihood: a breast cancer diagnosis before age 50, breast cancer in both breasts, both breast and ovarian cancer in the same person, a male family member with breast cancer, multiple cases of breast cancer across the family, or Ashkenazi Jewish ancestry.
Your primary care doctor will typically ask about the types of cancer in your family, which relatives were affected, their age at diagnosis, and whether anyone had more than one type of cancer. Both close relatives (parents, siblings) and more distant ones (aunts, uncles, grandparents, cousins) matter here. If your family history raises enough red flags, you’ll be referred for genetic counseling before any test is ordered.
If someone in your family has already tested positive for a specific BRCA mutation, you’re automatically a candidate for what’s called cascade testing. This is a targeted test that looks only for the exact mutation found in your relative, making it faster and more straightforward.
The Role of Genetic Counseling
Before testing, you’ll meet with a genetic counselor or another professional trained in interpreting genetic results. This isn’t a formality. The pre-test session covers what the test can and can’t tell you, how a positive result might affect your medical decisions, and what it could mean for your family members. The counselor will also help you think through the emotional and practical implications of learning your genetic status.
After results come back, the counselor walks you through what your specific result means for your cancer risk, what screening or prevention options are available, and whether your blood relatives should consider testing. This post-test conversation is especially important if you receive an ambiguous result, which happens more often than most people expect.
What the Test Itself Involves
The physical process is straightforward. Most commonly, a healthcare provider draws a small blood sample, which is sent to a specialized genetics lab. Some labs now offer saliva-based collection instead, where you hold a swab inside your cheek for about 30 seconds on each side. Saliva testing avoids the needle, doesn’t require a trained phlebotomist, and is about 98% concordant with blood-based results, making it a reliable alternative.
Results typically take weeks, though in some cases it can stretch to a few months depending on the lab and the type of test ordered.
Single-Gene vs. Multigene Panel Tests
You can be tested for BRCA1 and BRCA2 alone, but most labs now offer multigene panels that screen anywhere from 5 to 43 cancer-related genes at once. These panels check for mutations in genes like PALB2, CHEK2, and ATM, which also raise breast cancer risk but aren’t as well known as BRCA.
The practical advantage is significant. In a study of 966 patients at risk for hereditary breast cancer, those who received multigene panel testing had the same rate of BRCA1/2 detection as those tested for BRCA alone, but the panel group identified an additional 3.9% of patients carrying harmful mutations in other cancer-related genes. That’s roughly 1 in 25 people who would have been told “no mutation found” under BRCA-only testing but actually carried a different actionable mutation. If you’re going through the process anyway, a broader panel gives you a more complete picture for similar effort.
Why Consumer Tests Fall Short
Direct-to-consumer genetic tests like 23andMe offer BRCA screening, but they check for only three specific mutations most common in people of Ashkenazi Jewish descent. Those three variants represent a tiny fraction of the more than 2,400 different harmful BRCA1/2 mutations that have been identified.
The gap is enormous. Consumer testing misses over 90% of harmful BRCA1/2 variants in people without Ashkenazi Jewish ancestry. Even among Ashkenazi Jewish individuals, it still misses about 10%. A negative result from a consumer test provides very little reassurance, especially if you have a concerning family history. Clinical-grade sequencing examines the full BRCA1 and BRCA2 genes and is the only type that should inform medical decisions.
Understanding Your Results
Results fall into three categories. A positive result means the lab found a mutation known to increase cancer risk. A negative result means no known harmful mutations were detected. The third possibility, which many people don’t anticipate, is a variant of uncertain significance (VUS). This means the lab found a genetic change, but there isn’t enough data yet to determine whether it raises cancer risk.
A VUS is not a positive result. Most variants of uncertain significance are eventually reclassified as benign as researchers gather more data. In the meantime, your doctor will base any screening or prevention decisions on your family history and other risk factors rather than the VUS itself. If you receive one, your genetic counselor can explain what follow-up, if any, makes sense.
What a Positive Result Means for Family
If you test positive for a BRCA mutation, your first-degree relatives (parents, siblings, children) each have a 50% chance of carrying the same mutation. The American College of Obstetricians and Gynecologists recommends that tested patients notify their relatives about the familial risk so those family members can pursue cascade testing.
Cascade testing is simpler than the initial test because the lab already knows exactly which mutation to look for. A relative typically receives a letter from your genetic counselor or oncologist describing the specific mutation, which they bring to their own provider to initiate targeted testing. The ethical questions around disclosing results to family can feel complicated, but genetic counselors are trained to help you navigate those conversations.
Cost and Insurance Coverage
If you meet clinical criteria for testing, most insurance plans cover BRCA testing, with additional protections under the Affordable Care Act for high-risk individuals. Your out-of-pocket cost depends on your plan’s structure: you may owe a co-pay, a percentage of the cost as co-insurance, or the full price until you meet your deductible. For people without insurance coverage, self-pay options start at around $250, though prices vary by lab. Some laboratories offer financial assistance programs that can reduce costs further.