Reference Interval:
By report
|
| Interpretive Data: |
Background Information for Multiple Endocrine Neoplasia, Type 2B (RET) 2 Mutations:
Characteristics: Medullary carcinoma of the thyroid, pheochromocytoma, mucosal neuromas, and Marfanoid body habitus.
Incidence: Approximately 1: 600,000
Inheritance: Autosomal dominant; 50 percent of cases caused by de novo mutations.
Penetrance: 100 percent for medullary thyroid carcinoma, 50 percent for pheochromocytoma.
Cause: RET proto-oncogene mutations.
Mutations Tested: M918T, A883F.
Clinical Sensitivity: 98 percent.
Methodology: Polymerase chain reaction followed by unlabeled probe and melting curve analysis.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: RET mutations, other than M918T and A883F, will not be identified.
This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Refer to Statement C under Testing Information at http://www.aruplab.com.
|
| CPT Code(s): |
83891 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.
|
|
![[ image for: Patient History for Multiple Endocrine Neoplasia]](icon_32.jpg){kind=icon}