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

28-35 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

Lavender (K2EDTA), 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: 1 week; Refrigerated: 1 month; Frozen: 6 months

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. This assay is not designed to detect somatic variants associated with malignancy. Interpretation of this test result may be impacted if the patient has had an allogeneic stem cell transplantation.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81405; 81404

Components
Component Test Code* Component Chart Name LOINC
2005361 MEN Type 1 (MEN1) Seq, Del/Dup Specimen
2005362 MEN Type 1 (MEN1) Seq, Del/Dup Interp
* 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
  • MEN1 sequencing and deletion/duplication assay
Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication