Hereditary Cancer Single Site(s)

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 Quest offers as part of the Comprehensive Hereditary Cancer Panel (test code 38600).

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

A single gene or 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, or a blood relative’s results are not available. 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).

For more information or 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).

The right time depends on the 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. 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 genetic counselor by visiting FindAGeneticCounselor.com. 

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 if needed. Turnaround time may vary based on delays caused by incomplete orders or insurance authorizations.

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. Visit the website 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

If testing was done because of a known disease-associated familial variant, a negative result means that the individual did not inherit that 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 genomic science specialist.

The Hereditary Cancer Single Site(s) test may be used to confirm variants identified during 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 Solid Tumor Expanded Panel from Quest (test code 93233). 

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 (eg, DTC testing) before the genetic result is be utilized in clinical management. 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.