Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing
0051390
Ordering Recommendation
Diagnostic testing for multiple endocrine neoplasia type 2.  Predictive testing for multiple endocrine neoplasia type 2.
Mnemonic
MEN2 SEQ
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
14-21 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: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report  
Interpretive Data
Background Information:
Characteristics:
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.





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
Components
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.
Aliases
  • MEN2 sequencing
  • MEN2:RET Gene Sequencing