Hereditary Cancer Single-Gene Sequencing and Deletion/Duplication

Generally, this test may be indicated based on personal or family history of cancer.

Hereditary cancer single-gene tests analyze single-nucleotide variants, deletions, and duplications in individual genes associated with a hereditary risk for cancer or tumor development. See the Table showing clinical indications for hereditary cancer single-gene tests for further information.

Please note: If considering ordering multiple single-gene tests, panel-based testing is often a more efficient and cost-effective testing strategy. For assistance with test selection, contact a Quest Genomic Science Specialist at 1.866.GENE.INFO (1.866.436.3463). 

If a familial mutation 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. 

For more information, please visit 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).

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 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 21-30 days.

Please note that there may be an additional 7-10 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.

Individuals with a positive result have a pathogenic or likely pathogenic variant detected in a gene associated with hereditary cancer or tumor predisposition. A positive result does not mean that an individual has cancer or will develop cancer. Specific risk information will be provided in the result report, and our website at QuestHereditaryCancer.com has more information.

The National Comprehensive Cancer Network (NCCN^®) provides up-to-date surveillance and management recommendations for individuals with a positive result.^1,2,3

A negative result means that a pathogenic or likely pathogenic variant was not detected in the individual gene 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.

To discuss possible additional studies with a genomic science specialist, Please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463).

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 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.

Hereditary cancer single-gene tests cannot detect all causes of hereditary predisposition to cancer. The tests are limited to the specific gene tested and do not analyze genes associated with hereditary cancer(s) other than those specified. This test does not examine each and every gene region that is associated with hereditary 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.

If you have questions or would like to discuss test options, please call Quest Genomics Client Services at 1.866.GENE.INFO.

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 specialized Quest genomic science specialists or 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.