Multiple Endocrine Neoplasia Type 1 via the MEN1 Gene
Use
This test is designed for individuals who have features consistent with a clinical or suspected diagnosis of multiple endocrine neoplasia type 1 (MEN1) or with familial isolated hyperparathyroidism (FIHP). It aims to detect pathogenic variants in the MEN1 gene, which are associated with the condition. Accurate diagnosis through genetic testing can guide clinical management, inform treatment decisions, and allow for the identification of at-risk family members.
Special Instructions
Standard institutional pricing requires sign-in. STAT testing is available, which expedites the process to a turnaround time of 7 to 16 days. Orders can be placed online or via fax using the test requisition form. Coordination with healthcare providers is recommended to ensure proper specimen collection and submission.
Limitations
This test may not detect all variants associated with MEN1. Variants in other genes or regulatory regions not covered by the test may contribute to the phenotype and will not be detected. In some instances, technical limitations may result in false negatives. For comprehensive assessment, phenotype information and family history should be considered in conjunction with genetic testing results.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
