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Hereditary Cancer Single Site(s)

Test code(s) 93945

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

The Hereditary Cancer Single Site(s) test is used to identify the presence or absence of a familial variant associated with cancer (ie, known familial mutation [KFM]) that has been previously identified in a family member of an individual. Additional applications include confirmatory testing of research results, tumor profiling, direct-to-consumer (DTC) testing, or raw data analysis. Hereditary Cancer Single Site(s) testing is available for variants in any of the genes that we offer as part of our Comprehensive Hereditary Cancer Panel (test code 38600).

Official test results of the family member, or of the individual if you are seeking confirmatory testing, must be available for laboratory review.

Question 2. What other tests might be appropriate?

A multigene panel may be more appropriate in certain situations, particularly when a familial mutation does not adequately address the entirety of an individual’s personal and family history of cancer. This could be especially important when an individual has a family history of cancer on both sides of their family. Additionally, because of low- and moderate-penetrance genes, an individual’s cancer may be due to pathogenic variants in more than one gene. For more information about additional test options please visit our website at QuestHereditaryCancer.com, or call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463).

Question 3. Whom can I ask for help regarding a specific case?

For more information or 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 4. When is the right time to pursue this test?

The right time is different for every individual. An individual’s age, current medical status, 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 5. 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  6. What does a positive test result mean?

If testing was done because of a known disease-associated familial variant, a positive test result means that the individual did inherit the known disease-associated familial variant. 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 most individuals with a positive result.1-4

Question 7. What does a negative test result mean?

If testing was done because of a known disease-associated familial variant, a negative result means that the individual did not inherit the known disease-associated familial variant. Individual risk assessment based on personal and family history by a qualified healthcare professional is required. 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 8. How would I use this test after tumor profiling?

Individuals with cancer may have had next-generation sequencing (NGS) testing on their tumor for diagnostic, prognostic, and/or treatment purposes. One implication of tumor testing is the identification of a variant that may also be present in the germline of the individual. Hereditary Cancer Single Site(s) testing may be used to confirm such variants, such as those reported with the Watson Genomics from Quest, Core test (test code 93234).

Question 9. How wouldI use this test after direct-to-consumer (DTC) testing?

Some genetic tests on the market today may not be performed in a CLIA-certified laboratory. The Clinical Laboratory Improvement Amendments (CLIA) are federal regulatory standards that ensure the analytical validity of genetic tests. Furthermore, individuals may pursue third-party raw data analysis, which is prone to high false-positive rates. Hereditary Cancer Single Site(s) testing can be used to confirm the presence or absence of a variant previously identified by a non-CLIA-certified laboratory before genetic result may be utilized in clinical management.

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
  2. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Genetic/familial high-risk assessment: colorectal. Version 3. 2019. Published December 19, 2019. https://www.nccn.org
  3. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Cutaneous melanoma. Version 4. 2020. Published September 1, 2020. https://www.nccn.org
  4. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Prostate cancer early detection. Version 2. 2020. Published August 24, 2020. 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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