ARUP's Laboratory Test Directory
| 0051492: Multiple Endocrine Neoplasia Type 2B (MEN2B), RET Gene M918T & A883F Mutations |
![[ image for: Patient History for Multiple Endocrine Neoplasia]](icon_32.jpg){kind=icon} | Patient History for Multiple Endocrine Neoplasia |
| Test Mnemonic: MEN 2 B | |
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Methodology: Polymerase Chain Reaction/Fluorescence Monitoring
Performed: Mon, Thu Reported: 7-10 days |
| Specimen Required: | |
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Collect: One 3 mL lavender (EDTA) or pink (K2EDTA).
Transport: 3 mL whole blood at 2-8°C. (Min: 1 mL) Pediatric Collection/Transport: 1 mL whole blood at 2-8°C. Stability: Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable |
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| Reference Interval: |
| By report |
| Interpretive Data: | |
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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. Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com. Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory. |
| 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. |