Reference Interval:
By report
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| Interpretive Data: |
Background Information:
Characteristics: Medullary carcinoma of the thyroid, pheochromocytoma, mucosal neuromas, and Marfanoid body habitus.
Incidence: Approximately 1:600,000
Inheritance: Autosomal dominant; 50% of cases caused by de novo mutations.
Penetrance: 100% for medullary thyroid carcinoma, 50% for pheochromocytoma.
Cause: RET proto-oncogene mutations.
Mutations Tested: M918T, A883F
Clinical Sensitivity: 98%
Methodology: Polymerase chain reaction followed by unlabeled probe and melting curve analysis.
Analytical Sensitivity and Specificity: 99%
Limitations: RET mutations, other than M918T and A883F, 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): |
83890 Isolation; 83898 x2 Amplification; 83896 x2 Nucleic acid probes; 83912 Interpretation and report. Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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