Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing
Ordering Recommendation

Diagnostic testing for multiple endocrine neoplasia type 1. Predictive testing for multiple endocrine neoplasia type 1.

Polymerase Chain Reaction/Sequencing
21-28 days
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Interpretive Data
Background Information for Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing:
Multiple Endocrine Neoplasia Type 1 (MEN1) syndrome can include multiple endocrine and non-endocrine tumors. Common MEN1-related endocrine tumors include parathyroid (90-95 percent), pancreatic islets (30-80 percent), and pituitary (15-90 percent). Non-endocrine tumors include facial angiofibroma, collagenoma, lipoma, meningioma, ependymoma, and leiomyoma. Primary hyperparathyroidism is the most common and often the first manifestation of MEN1. High mortality rates occur in persons with gastrinoma and carcinoid tumors.
Incidence: Approximately 1 in 30,000.
Inheritance: Autosomal dominant.
Penetrance: Approximately 50 percent by age 20 and 95 percent by age 40.
Pathogenic MEN1 gene mutations.
Clinical Sensitivity: Approaches 90 percent.
Methodology: Bidirectional sequencing of the entire coding region and intron-exon boundaries of the MEN1 gene.
Analytical Sensitivity and Specificity: Approximately 98 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected. Mutations in genes other than MEN1 are not evaluated.

Statement C: Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Hotline History
Component Test Code*Component Chart NameLOINC
2005356MEN Type 1 (MEN1) Sequencing Interp
2005357MEN Type 1 (MEN1) Sequencing Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please view this test within the Laboratory Test Directory found at
  • MEN1
  • MEN2 sequencing