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Quest Diagnostics

BRCA1 and BRCA2 tests

Test Codes: 91863, 91864, 92140

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.

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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.

A VUS result means that the variant has not been previously described in the literature or that the clinical significance is unclear based on currently available evidence. Medical decisions should be based on personal and family history. Family studies may inform the clinical significance of this variant.

The classification and interpretation of the variant(s) identified reflect the current state of Quest’s understanding at the time of the report. Variant classification and interpretation are subject to professional judgment and may change for a variety of reasons including, but not limited to, updates in classification guidelines and availability of additional scientific and clinical information. It is important to check in with the laboratory annually for variant updates because new information regarding the variant and classification may become available over time.

Please visit QuestDiagnostics.com/VariantIQ for information about variant classification.

For questions, please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463) to speak with a genomic science specialist.

This test cannot detect all causes of hereditary predisposition to breast cancer. This test is limited to the genes on the panel and does not analyze genes associated with hereditary breast cancer other than those specified. This test does not examine each and every gene region that is associated with hereditary breast cancer, so the test cannot detect variants in those unexamined gene regions. There may be other genetic tests that are also appropriate depending on a patient’s personal or family history of cancer.

While this panel includes genes associated with a number of other hereditary cancers besides breast cancer (for example the BRCA1 and BRCA2 genes are associated with pancreatic and ovarian cancer), these tests are not optimized for those other cancers. If the indication for testing is related to a different cancer type, alternative panels may be considered. If you have questions or would like to discuss test options, please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463) to speak with a genomic science specialist.

In addition, the effect of rare or novel variants on cancer risk may remain unclear despite technical and clinical advances. Although rare, false-positive or false-negative results may occur for several reasons. Therefore, results should be interpreted in the context of clinical findings, relevant history, and other laboratory data. In some situations, additional genetic testing may be appropriate. A genetic counselor or other qualified healthcare professional can help explain test results and what they mean for a patient and family members.

A person’s cancer risks should be based on their own medical history and family history of cancer. A doctor, genetic counselor, or other qualified healthcare professional can help to estimate this risk. A team of genomic science specialists and geneticists are available to speak with healthcare providers about test results by calling 1.866.GENE.INFO.

Patients can access a directory of independent genetic counselors at FindAGeneticCounselor.com.

Reference

  1. National Comprehensive Cancer Network. Genetic/familial high-risk assessment: breast, ovarian, pancreatic and prostate. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Version 2.2025. November 7, 2024. https://www.nccn.org

 

 

This FAQ is provided for informational purposes only and is not intended as medical advice. A physician’s test selection and interpretation, diagnosis, and patient management decisions should be based on the physician’s education, clinical expertise, and assessment of the patient.

 

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