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BRCA1 and BRCA2 Deletion/Duplication

Test code(s) 91866

Question 1. What is the clinical application of this test?

This test analyzes deletions and duplications in the BRCA1 and BRCA2 genes for individuals who have previously had BRCA1 and BRCA2 gene sequencing but limited or no deletion/duplication analysis.

Question 2. What other tests might be appropriate?

When hereditary breast and ovarian cancer (HBOC) syndrome due to BRCA1 or BRCA2 is suspected and no BRCA1 or BRCA2 mutation testing has been performed, consider ordering the BRCA Panel (BRCA1, BRCA2) test [test code 91863]).

If a familial mutation has been detected by sequencing and/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.

For individuals of Ashkenazi (Eastern European) Jewish heritage, consider performing the BRCA Ashkenazi Jewish Screen [test code 91864] first. Full sequencing may be considered if ancestry also includes non-Ashkenazi Jewish relatives or if other clinical criteria for HBOC syndrome are met. For this scenario, consider BRCA Ashkenazi Jewish Screen with Reflex to BRCA Panel (BRCA1, BRCA2) [test code 92140].

For individuals of Ashkenazi Jewish descent and the familial mutation is not 1 of the 3 Ashkenazi Jewish founder mutations, consider testing for both the founder mutations (BRCA Ashkenazi Jewish Screen [test code 91864]) and the familial mutation (Hereditary Cancer Single Site[s] test [test code 93945]).

Additional tests, such as multigene tests, are available to assess the risk of hereditary gastric cancer. For more information, please visit our website QuestHereditaryCancer.com. To discuss a family history with a Quest Diagnostics genetic counselor, please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463).

Question 3. For whom may this test be appropriate?  

This test is only appropriate for individuals who have previously had BRCA1 and BRCA2 gene sequencing, but limited or no deletion/duplication studies.1 Informed consent following genetic counseling is strongly recommended.

Question 4. Whom can I ask for help regarding a specific case?

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

Question 5. When is the right time to pursue this test?

The right time is different for every individual. 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. Having an open dialogue with individuals about these topics can assist with shared decision-making.

Question 6. How do I know if insurance will cover my testing?

Upon receipt of a fully completed order, our team will verify coverage with your patient’s healthcare insurance plan and estimate their likely out-of-pocket responsibility. If your patient’s estimated responsibility is over $100, we will notify you and/or your patient prior to test initiation to discuss options for continuation or cancellation of the test. Please note that orders lacking complete information will not be processed.

Question 7. How quickly can I expect results?

On average, results will be completed 14 to 21 days after receipt of the sample in the laboratory if the family history form and order are complete and the health plan does not require preauthorization. Turnaround time may vary based on delays caused by incomplete orders or insurance authorizations.

Question 8. What does a positive result mean?

Individuals with a positive result have a pathogenic or likely pathogenic variant detected in the BRCA1 and/or BRCA2 gene(s), and a diagnosis of HBOC syndrome. A positive result does not mean that an individual has a diagnosis of cancer. Specific risk information will be provided in the result report, and you can visit our website at 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

Question 9. What does a negative result mean?

A negative result means that a pathogenic or likely pathogenic deletion or duplication was not detected in the BRCA1 and BRCA2 genes. For more information regarding specific genetic variants analyzed in this assay, please refer to the methods and limitations section of the genetic testing report. Implications of this result depend on the situation:

Individual previously diagnosed with 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, it may be appropriate to test for other hereditary forms of cancer. Please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463) to discuss possible additional studies with a genetic counselor.

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 histories. Testing an affected family member may further inform this risk assessment. In some instances, it may be appropriate to test for other hereditary forms of cancer. Please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463) to discuss possible additional studies with a genetic counselor.

Question 10. What does a variant of uncertain clinical significance (VUS) result mean?

A VUS result means that the variant has not been previously described in the literature or that the clinical significance is unclear based upon currently available evidence. Medical management decisions should be based on personal and family history. Family studies may help to learn more about 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. If you have questions, please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463) to speak with a genetic counselor.

Reference

  1. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Genetic/familial high-risk assessment: breast, ovarian, and pancreatic. Version 1. 2020. Published December 4, 2019. https://www.nccn.org
This FAQ is provided for informational purposes only and is not intended as medical advice. A clinician’s test selection and interpretation, diagnosis, and patient management decisions should be based on his/her education, clinical expertise, and assessment of the patient.
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