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Quest Diagnostics

Hereditary Colorectal Cancer Panel

Test code(s) 38631

This test is used to help identify individuals with a hereditary predisposition to colon cancer. It may be used for individuals with a personal or family history of colon cancer that does not clearly point to a specific cancer syndrome. This multigene panel can also identify individuals with a hereditary cancer predisposition when the clinical suspicion remains high despite a negative result on a single-gene/syndrome genetic test.

This panel analyzes 20 genes: APC, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, and TP53. 

Generally, this test may be indicated for individuals with

  • A personal history of colon cancer or other cancers of the gastrointestinal system who have tested negative for a single gene or syndrome, but who’s personal or family history remains strongly suggestive of an inherited susceptibility1

  • A personal and/or family history of colon cancer or other cancers of the gastrointestinal system that do not seem to fit a particular hereditary cancer syndrome1

Informed consent is required, and genetic counseling is recommended. Whenever possible, consider testing the person in the family with the youngest age at diagnosis related to genetic testing.

The Hereditary Colorectal Cancer Panel includes 20 genes associated primarily with gastrointestinal cancers. The genes may be associated with additional cancers which, but are not limited to, cancers of the colon, endometrium, ovary, pancreas, prostate, rectum, stomach, and urinary tract.  Most genes have National Comprehensive Cancer Network (NCCN®) management recommendations for one or more cancer sites (NCCN.org).

If a familial mutation has been detected by sequencing or deletion/duplication studies, the Hereditary Cancer Single Site(s) (test code 93945) may be considered. The family member’s official test results must be available for laboratory review. For more information, please visit our website QuestHereditaryCancer.com. 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).

To obtain 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).

The right time is different for every individual. An individual’s current medical status, treatment or screening plan, personal experience with cancer, family history, and general readiness for genetic information all influence the decision to proceed with testing. Having an open dialogue with individuals about these topics can assist with shared decision-making.

Additionally, you can consider referring individuals to a clinical genetic counselor for a thorough review of their family history and discussion of testing options. Find a local genetic counselor by visiting FindAGeneticCounselor.com

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 test is not expected to be covered, 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.

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.

Individuals with a positive result have a pathogenic or likely pathogenic variant(s) detected in one or more of the genes included in this panel. 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 NCCN® provides up-to-date surveillance and management recommendations (NCCN.org) for individuals with a positive result. 

A negative result means that a pathogenic or likely pathogenic variant was not detected in any of the genes included in this panel. 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 with previously diagnosed cancer: An individual’s risk of recurrence or a 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 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.

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 this 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.

This test cannot detect all causes of hereditary predisposition to colon cancer. This test is limited to the genes on the panel and does not analyze genes associated with hereditary colon cancer other than those specified. This test does not examine each and every gene region that is associated with hereditary colon cancer, so the test cannot detect variants in those unexamined gene regions. There may be other genetics tests that are also appropriate depending on a patient’s personal or family history of cancer.

While this panel includes genes associated with a broad spectrum of other hereditary cancers besides colon cancer (for example the panel may identify genes associated with breast and ovarian cancer), this panel is not optimized for those other cancers. If the indication for testing is related to a different cancer type, alternative panels may be considered. If you have questions or would like to discuss test options, please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463) to speak with a genetic counselor.

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 genetic counselors 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

Reference

  1. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Genetic/familial high-risk assessment: colorectal. Version 2.2022. Published December 7, 2022. https://www.nccn.org

 


This FAQ is provided for informational purposes only and is not intended as medical advice. A physician’s test selection and interpretation, diagnosis, and patient management decisions should be based on his/her education, clinical expertise, and assessment of the individual.


Document FAQS.218 Version 1

Version 1: Effective 04/21/2023 to present

Version 0: Effective 01/25/2021 to 04/21/2023

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