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

21-28 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: 1 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:
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. 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

Components
Component Test Code* Component Chart Name LOINC
2005356 MEN Type 1 (MEN1) Sequencing Interp
2005357 MEN 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
Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing