Overview

Test Name

Hereditary Endocrine Cancer Panel

Test Code

HCE1006

Test Category

Gene Panels

Test Subcategory

Hereditary Cancer

Disease(s) Targeted

Endocrine Cancer

Who Is The Test For?

Patients with a family history, clinical suspicion, or diagnosis of Endocrine cancer

No. of Genes

Panel Content

AIP, APC, CDC73, CDKN1B, DICER1, FH, MAX, MEN1, MET, NF1, PRKAR1A, PTEN, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, VHL, WRN

Mitochondrial Genome Included In The Analysis

Deliverables

Clinical Report (Download a sample report here)

Turnaround Time

~3-6 weeks*

Specimen Requirements

For detailed information about the sample requirements, please consult our clinical sample requirements page.

*Turnaround times are estimated from receipt of satisfactory specimen and test request form at the laboratory to release of clinical report. The turnaround time may vary depending on the nature of the specimen and the complexity of the investigation required. The above table is only a guideline and the complexity of a case and the requirement for further investigations may change this.

About Endocrine Cancer

Hereditary endocrine cancer is a rare genetic condition causing tumors in endocrine glands and other organs. Endocrine glands secrete hormones, so tumors arising from these glands may also overproduce hormones that result in symptoms. Early diagnosis and treatment are essential to help reduce the impact of these conditions on the patient. The most common hereditary endocrine cancer syndromes are the Multiple Endocrine Neoplasia (MEN) syndromes.

Multiple Endocrine Neoplasia Type 1 (MEN1), also known as Wermer Syndrome, affects the pituitary, parathyroid, and pancreas. It is caused by an inherited loss-of-function variants in the MEN1tumor suppressor gene, which encodes the menin protein. MEN1 is inherited in an autosomal dominant manner; approximately 90% of individuals diagnosed with MEN1 have an affected parent.

Multiple Endocrine Neoplasia Type 2 (MEN2) increases the risk of medullary thyroid cancer, adrenal medullary tumors (phaeochromocytomas), and parathyroid adenoma or hyperplasia. It is caused by inherited gain-of-function variants in the RET receptor tyrosine kinase. MEN2 phenotypes are inherited in an autosomal dominant manner.

This panel also includes genes associated with conditions that cause increased thyroid cancer risk such as familial adenomatous polyposis (APC), Li-Fraumeni syndrome (TP53), Cowden syndrome (PTEN), Carney complex (PRKAR1A) and DICER1 syndrome (DICER1).