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.



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)
81405
Components
Component Test Code*Component Chart Name
0051391MEN2 (RET) Sequencing
2001364MEN2 (RET) 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, contact interface support at interface.support@aruplab.com.
Cross References
  • MEN2:RET Gene Sequencing