MEN1 Sequencing and Deletion/Duplication
Use
This test is intended to identify individuals with multiple endocrine neoplasia type 1 (MEN1) syndrome by detecting single-nucleotide variants, deletions, and duplications in the MEN1 gene, which encodes the tumor suppressor protein menin. It supports diagnosis in patients with a personal history of parathyroid hyperplasia, pancreatic neuroendocrine tumors, pituitary adenomas, or neuroendocrine tumors of lung or thymus, adrenal adenomas or carcinomas, thyroid adenomas, lipomas, or cutaneous angiomas. Genetic counseling and informed consent are strongly recommended.
Special Instructions
Sample reports and information regarding specific variants analyzed are available via QuestHereditaryCancer.com. Informed consent following genetic counseling is strongly recommended. Whenever possible, testing should begin with the youngest affected family member. A fully completed order is needed for processing; insurance coverage will be verified upon order receipt, and if estimated out-of-pocket responsibility exceeds $100, provider/patient will be notified prior to test initiation.
Limitations
Variant classification and interpretation may change over time; recommendations such as surveillance and management are guided by NCCN and may evolve. A positive result indicates detection of a pathogenic or likely-pathogenic variant in MEN1 but does not indicate diagnosis of cancer. Variant interpretation is subject to professional judgment; reclassification can occur as new information becomes available. It is recommended to check annually for updated variant classifications via QuestDiagnostics.com/VariantIQ.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Not provided.