Multiple Endocrine Neoplasia Type 1 (MEN1) Deletion/Duplication (INACTIVE as of 05/15/17: Refer to 2005360)
Ordering Recommendation

This is a second tier test and REQUIRES PERMISSION from  ARUP's Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing and deletion/duplication test.

Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Within 14 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
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) Deletion/Duplication:
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 4 percent.
Methodology: Multiplex ligation-dependent probe amplification (MLPA) to detect large MEN1 coding region deletions/duplications.
Analytical Sensitivity and Specificity: Approximately 98 percent.
Limitations:Diagnostic errors can occur due to rare sequence variations.Single base pair substitutions, small deletions/duplications, regulatory region mutations, and deep intronic mutations will not be detected. The breakpoints of large deletions/duplications will not be determined. Mutations in genes other than MEN1 are not evaluated.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Component Test Code*Component Chart NameLOINC
2005348MEN Type 1 (MEN1) Del/Dup Interpretation13964-2
2005349MEN Type 1 (MEN1) Del/Dup Specimen31208-2
* 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 click the sidebar link to access the Interface Map.
  • MEN1
  • MEN1 deletion/duplication assay