Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication

Casandra

Casandra Test Code AR79016Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3004437CPT Codes 81404, 81405

Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication

Also known as: MEN1 NGS

Clinical Use

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Use

The test is used for diagnostic and predictive testing for multiple endocrine neoplasia type 1 (MEN1). MEN1 syndrome can include multiple endocrine and nonendocrine tumors, with common endocrine tumors including parathyroid, pancreatic islets, and pituitary, and nonendocrine tumors such as facial angiofibroma, collagenoma, lipoma, meningioma, ependymoma, and leiomyoma. A pathogenic germline variant in the MEN1 gene causes the syndrome. Primary hyperparathyroidism is the most common and often the first manifestation of MEN1, and the syndrome has high mortality rates in individuals with gastrinoma and carcinoid tumors. A pathogenic MEN1 variant is identified in 80 to 90 percent of individuals who meet clinical criteria for MEN1 syndrome and have a family history of related cancers.

Special Instructions

For New York clients, specimens will be sent out to a New York state-approved laboratory. Informed consent for genetic testing is required for New York patients. A Hereditary Cancer Testing Patient History Form must be submitted with the order.

Limitations

A negative result does not exclude a diagnosis of MEN1 or other genetic diagnoses. The test only detects variants within the coding regions and intron-exon boundaries of the MEN1 gene. Some deletions/duplications/insertions may not be detected by massively parallel sequencing, and regulatory region variants and deep intronic variants will not be identified. Precise breakpoints for large deletions or duplications are not determined in this assay, and single exon deletions/duplications may not be detected depending on the specific breakpoints. The test is not intended to detect duplications of two or fewer exons in size. Diagnostic errors can occur due to rare sequence variations, the presence of pseudogenes, repetitive, or homologous regions. The test does not detect low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA (mtDNA) mutations, or repeat expansions. Interpretation may be impacted if an allogeneic stem cell transplantation has occurred.

Test Details