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BRCA Ashkenazi Jewish Screen

Test code(s) 91864

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

This test is used for individuals of Ashkenazi Jewish descent to identify a hereditary predisposition breast cancer. It is designed to detect the 3 mutations in BRCA1 and BRCA2 known to be more common in people of Ashkenazi (Eastern European) Jewish descent. Specifically, the only mutations included are 185delAG (c.68_69delAG) and 5382insC (c.5266dupC) in the BRCA1 gene and 6174delT (c.5946delT) in the BRCA2 gene.

Question 2. What other tests might be appropriate?

If an individual is not of Ashkenazi Jewish descent, this test should not be ordered. Depending on an individual’s personal and family histories, BRCA Panel (BRCA1, BRCA2 [test code 91863]) may be appropriate.

If an individual is of Ashkenazi Jewish descent and there is a familial mutation that 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 code 93945]).

If an individual is of Ashkenazi Jewish descent and the familial mutation is unknown, consider testing for Ashkenazi Jewish founder-specific mutations first. Full sequencing may be considered if ancestry also includes non-Ashkenazi Jewish relatives or if other clinical criteria for BRCA-related breast and/or ovarian cancer syndrome are met. For this scenario, consider the BRCA Ashkenazi Jewish Screen with Reflex to BRCA Panel (BRCA1, BRCA2 [test code 92140]).

Additional tests, such as multigene panel tests, are available to help assess the risk of hereditary breast 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. What are the clinical indications for this testing?

Generally, this test may be indicated for individualswith apersonal or family history of breast cancer, ovarian cancer, high-grade (Gleason score ≥7) prostate cancer, or pancreatic cancer.

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

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, treatment or screening plan, personal experience with cancer, 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 this 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). A positive result does not mean that an individual has 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 the 3 Ashkenazi Jewish founder mutations were not detected. Implications of this result depend on the situation:

Individual with a known family history of 1 of the 3 Ashkenazi Jewish mutations: None of the 3 Ashkenazi Jewish founder mutations were detected. The patient’s risk of breast and ovarian cancer is likely equivalent to that of the general population. In some instances, it may be appropriate to test for other hereditary forms of cancer.

Individual with previously diagnosed cancer: None of the 3 Ashkenazi Jewish founder mutations were detected. Consider the BRCA Panel (BRCA1, BRCA2 [test code 91863]) if the patient meets clinical criteria. Your patient’s risk of recurrence or a related new cancer is based on his/her 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: None of the 3 Ashkenazi Jewish founder mutations were detected. Your patient’s risk of cancer is based on his/her personal and family history of cancer. Testing an affected family member may further inform this risk assessment. Consider the BRCA Panel (BRCA1, BRCA2 [test code 91863]) if the patient meets clinical criteria. Please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463) to discuss possible additional studies with a genetic counselor.

References

  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.
Document FAQS.121 Version 3
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Version 2: Effective 07/21/2016 to 03/17/2021
Version 1: Effective 04/23/2015 to 07/21/2016
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