Multiple Endocrine Neoplasia Type 1 (MEN1) Deletion/Duplication
2005346
Ordering Recommendation
This is a second tier test and REQUIRES PERMISSION fromARUPs Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing and deletion/duplication test.
Mnemonic
MEN1 DD
Methodology
Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
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) 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 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.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
Note
CPT Code(s)
81404
Components
Component Test Code*Component Chart Name
2005348MEN Type 1 (MEN1) Del/Dup Interpretation
2005349MEN Type 1 (MEN1) Del/Dup 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.
Cross References
  • MEN1
  • MEN1 deletion/duplication assay