Diagnostic and predictive testing for multiple endocrine neoplasia type 2.
- 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
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.
|Component Test Code*||Component Chart Name||LOINC|
|0051391||MEN2 (RET) Sequencing||21733-1|
|2001364||MEN2 (RET) Sequencing, Specimen||31208-2|
- MEN2 sequencing
- MEN2:RET Gene Sequencing
- RET Proto-oncogene