ARUP's Laboratory Test Directory

Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing : 0051390
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Patient History for Multiple Endocrine Neoplasia 2, RET Gene Testing
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Additional Technical Information


Mnemonic: MEN2 SEQ

Ordering Recommendation: Diagnostic testing for multiple endocrine neoplasia type 2. Predictive testing for multiple endocrine neoplasia type 2.
Methodology: Polymerase Chain Reaction/Sequencing
Performed: Varies
Reported: 14-21 days
Specimen Required: 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.

Stability (collection to initiation of testing): 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.
Mutations Detected: Mutations in exons 5, 8, 10, 11, and 13-16.
Clinical Sensitivity: 95 percent for MEN 2A, 88 percent for FMTC, and 98 percent for MEN 2B.
Methodology: Bidirectional sequencing
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.



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
CPT Code(s): 81405
Cross References: MEN2:RET Gene Sequencing (Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing) , RET (Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing)