Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication
2005360
Ordering Recommendation
Diagnostic testing for multiple endocrine neoplasia type 1. Predictive testing for multiple endocrine neoplasia type 1.
Mnemonic
MEN1 FGA
Methodology
Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 35 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: 2 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 and Deletion/Duplication:
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 94 percent.
Methodology:
Bidirectional sequencing of the entire coding region and intron-exon boundaries of the MEN1 gene. 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. 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.





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, 81404
Components
Component Test Code*Component Chart Name
2005361MEN Type 1 (MEN1) Seq, Del/Dup Specimen
2005362MEN Type 1 (MEN1) Seq, Del/Dup Interp
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Aliases
  • MEN1
  • MEN1 sequencing and deletion/duplication assay