Reference Interval:
By report
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| 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% de novo mutations in MEN 2B.
Penetrance: Incomplete. Varies by subtype.
Cause: RET proto-oncogene mutations.
Mutations Detected: Mutations in exons 10, 11, and 13-16.
Clinical Sensitivity: 95%, 88%, and 98% for MEN 2A, FMTC, and MEN 2B, respectively.
Methodology: Bidirectional sequencing
Analytical Sensitivity and Specificity: Greater than 99%.
Limitations: Mutations in RET proto-oncogene introns, regulatory regions, or exons not targeted for sequencing will not be identified.
Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.
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| CPT Code(s): |
83891 Isolation; 83898 x6 Amplification; 83904 x6 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report
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