BRCA1 and BRCA2 tests

This test is used to identify individuals with increased risk for hereditary breast and ovarian cancer syndrome. Generally, this test may be indicated based on presence of Ashkenazi Jewish ancestry and/or personal or family history of cancer.

Sample reports and information regarding the specific variants analyzed for each gene are available on the website QuestHereditaryCancer.com.

If a familial variant has been detected by sequencing or deletion/duplication studies, the Hereditary Cancer Single Site(s) test (test code 93945) may be considered. Official test results of the family member must be available for laboratory review.

More comprehensive tests such as multigene panel tests are available to assess the risk of hereditary breast and other types of cancer. For more information, please visit our website QuestHereditaryCancer.com. To discuss a family history with a Quest Diagnostics genomic science specialist, please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463).

Generally, these tests may be indicated for individuals with Ashkenazi Jewish ancestry and/or a personal or family history of breast, ovarian, pancreatic, or metastatic or high-grade prostate cancers.¹

Informed consent following genetic counseling is strongly recommended. Whenever possible, consider testing the person in the family with the youngest age at diagnosis of breast or ovarian cancer.

For more information or to discuss a family history with a Quest genomic science specialist, please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463).

The right time depends on the individual. Whenever possible, consider testing the person in the family with the youngest age at the time of diagnosis related to this genetic test before testing unaffected relatives. An individual’s current medical status, personal experience with cancer, treatment or screening plan, and general readiness for genetic information all influence the decision to be tested. Informed consent is required, and genetic counseling is recommended. Having an open dialogue with individuals about these topics can assist with shared decision-making.

Additionally, consider referring individuals to a clinical genetic counselor for a thorough review of the individual’s family history and discussion of testing options. Find a local genomic science specialist by visiting FindAGeneticCounselor.com.

Upon receipt of a fully completed order, the Quest team will verify coverage with the patient’s healthcare insurance plan. If the patient’s estimated responsibility is over $100, the ordering healthcare professional and/or the patient will be notified before test initiation to discuss options for continuation or cancellation of the test.

Please note that orders lacking complete information will not be processed. 

For most tests, results will be completed 14 to 21 days after receipt of the sample in the laboratory and completion of preauthorization. For tests with 12 or more genes, the turnaround time is 21 to 30 days.

Please note that an additional 7 to 10 days for confirmation of copy number variants (CNVs) by an orthogonal method may be needed. Turnaround time may vary based on delays caused by incomplete orders or insurance authorizations.

Individuals with a positive result have a pathogenic or likely pathogenic variant detected in the BRCA1 and/or BRCA2 gene(s). A positive result does not mean that an individual has cancer or will develop cancer, but rather that they have an increased risk of developing certain types of cancer. Specific risk information will be provided in the result report. Visit the website QuestHereditaryCancer.com for more information.

The National Comprehensive Cancer Network (NCCN^®) provides up-to-date surveillance and management recommendations for individuals with a positive result.¹

A negative result means that a pathogenic or likely pathogenic variant was not detected in the genes or individual variants analyzed. For more information regarding specific genetic variants analyzed in the assay, please refer to the methods and limitations section of the genetic testing report. Implications of this result depend on the situation.

Individual with previously diagnosed cancer:

An individual’s risk of recurrence or a related new cancer is based on their personal and family histories of cancer. In some instances, testing for other hereditary forms of cancer may be appropriate.

Please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463) to discuss possible additional studies with a genomic science specialist.

Individual without previously diagnosed cancer but with a family history of cancer:

An individual’s risk of tumors or cancer is based on their personal and family history of cancer. Testing an affected family member may further inform this risk assessment. In some instances, testing for other hereditary forms of cancer may be appropriate.

Please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463) to discuss possible additional studies with a genomic science specialist.