Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing
Ordering Recommendation

Diagnostic and predictive testing for multiple endocrine neoplasia type 2.

Polymerase Chain Reaction/Sequencing
14-21 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information:
Medullary carcinoma of the thyroid, pheochromocytoma, parathyroid adenoma/hyperplasia; dependent on specific MEN type 2 subtype.
Incidence: Approximately 1 in 30,000.
Inheritance: Autosomal dominant. 50 percent de novo mutations in MEN 2B.
Penetrance: Incomplete. Varies by subtype.
Cause: RET proto-oncogene mutations.
Clinical Sensitivity: 95 percent for MEN 2A, 88 percent for FMTC, and 98 percent for MEN 2B.
Methodology: Bidirectional sequencing of exons 5, 8, 10, 11, and 13-16.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Mutations in RET proto-oncogene introns, regulatory regions, or exons not targeted for sequencing will not be identified. Diagnostic errors can occur due to rare sequence variations.

Compliance 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.

Component Test Code*Component Chart NameLOINC
0051391MEN2 (RET) Sequencing21733-1
2001364MEN2 (RET) Sequencing, Specimen31208-2
* 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.
  • MEN2 sequencing
  • MEN2:RET Gene Sequencing
  • RET Proto-oncogene