Hereditary Endocrine Cancer Panel

This test is used to identify individuals with a hereditary predisposition to tumors and cancers of the endocrine system. It is most useful for individuals with a personal or family history of tumors of the endocrine system 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 12 genes: FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, and VHL. 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 tumors of the endocrine system in individuals who have tested negative for a single gene or syndrome, but whose personal or family history remains strongly suggestive of an inherited susceptibility^1,2

• A family history of several different types of tumors of the endocrine system that do not seem to fit a particular hereditary cancer syndrome^1,2

• A personal and/or family history of paragangliomas/pheochromocytomas^1,2

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

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 our website QuestHereditaryCancer.com. 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).

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, personal experience, treatment or screening plan, 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 a diagnosis of 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 recommendations¹ for most individuals with a positive result.

Additionally, the Endocrine Society has published clinical practice guidelines for certain hereditary endocrine tumor predisposition syndromes.²

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 tumor or cancer: An individual’s risk of recurrence or a related new tumor or cancer is based on their personal and family histories. In some instances, it may be appropriate to test for other hereditary forms of endocrine tumors. 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 tumor or cancer but with a family history of cancer: An individual’s risk of tumors or 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 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.