Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing
2005359
Ordering Recommendation
Diagnostic testing for multiple endocrine neoplasia type 1. Predictive testing for multiple endocrine neoplasia type 1.
Mnemonic
MEN1 FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 28 days  
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
  
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
   
Interpretive Data
Background Information for Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing:
Characteristics:
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.
Cause:
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.





See Compliance Statement C: www.aruplab.com/CS
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.
 
Note
 
CPT Code(s)
81405
Components
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 click the sidebar link to access the Interface Map.
Aliases
  • MEN1
  • MEN2 sequencing