Hereditary Endocrine Cancer Panel

This multigene panel 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 smaller genetic test.

This panel includes analysis of 12 genes: FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, and VHL.

This test may be indicated for individuals with one or more of the following:

• A personal history of endocrine tumor(s) and a negative test result for a single gene or syndrome, but a personal and/or family history that strongly suggests an inherited susceptibility
• A personal and/or family history of several different types of endocrine tumors that do not fit a particular hereditary cancer syndrome
• A personal and/or family history of paragangliomas/pheochromocytomas^1,2

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

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 genomic science specialist, 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 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 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. 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.

Upon receipt of a fully completed order, the Quest team will verify coverage with the patient’s healthcare insurance plan. Quest will notify the ordering healthcare professional and/or the patient before test initiation to discuss options for continuation or cancellation of the test if the patient does not meet the qualifications for test coverage. Please note that orders lacking complete information will not be processed.

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 there may be 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.

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 the website QuestHereditaryCancer.com has more information.

The National Comprehensive Cancer Network (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 following situations:

Individual with previously diagnosed cancer:  

An individual’s risk of recurrence or a related new cancer is based on his/her personal and family history 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 genomic science specialist.

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 history. 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 genomic science specialist.

A VUS result means that the variant has not been previously described in the literature or that the clinical significance is unclear based on currently available evidence. Medical management decisions should be based on personal and family history. Family studies may help 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/VariantIQ.com 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.