Comprehensive Hereditary Cancer Panel

This test is used to identify individuals with a hereditary predisposition to cancer. It is most useful for individuals with a personal or family history of 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 66 genes: APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EGFR, EPCAM, FANCA, FANCC, FANCM, FH, FLCN, GALNT12, GREM1,HOXB13, MAX, MEN1, MET, MITF, MLH1, MRE11 (MRE11A), MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, POT1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RECQL, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, and XRCC2.

Sample reports and information regarding the specific variants analyzed for each gene are available on our website QuestHereditaryCancer.com.

Generally, this test may be indicated for individuals with

• A personal history of cancer who have tested negative for a single gene or syndrome, but whose personal or family history remains strongly suggestive of an inherited susceptibility
• A personal and/or family history of several different types of cancer that do not seem to fit a particular hereditary cancer syndrome

Informed consent following genetic counseling is strongly recommended before testing. Whenever possible, consider testing the person in the family with the youngest age at diagnosis of cancer related to genetic testing.

The Comprehensive Hereditary Cancer Panel includes 66 genes associated with a broad spectrum of hereditary cancers. This can include, but is not limited to, cancers of the adrenal glands, breast, colon, endometrium, neuroendocrine system, ovary, pancreas, prostate, paraganglia, rectum, skin, stomach, thyroid, urinary tract, and other tissues. Most genes have National Comprehensive Cancer Network (NCCN^®) (NCCN.org) management recommendations for one or more cancer sites.

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. Official test results of the family member 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).

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).

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.

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.

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 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: An individual’s risk of cancer is based on his/her 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 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. 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.