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
Ordering Recommendation

Diagnostic and 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 (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

By report

Interpretive Data

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. 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 Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
Hotline History
N/A
CPT Codes

81405

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Components
Component Test Code* Component Chart Name LOINC
0051391 MEN2 (RET) Sequencing 21733-1
2001364 MEN2 (RET) Sequencing, Specimen 31208-2
* 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
  • RET Proto-oncogene
Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing