ARUP's Laboratory Test Directory

0051390: Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing

[ image for: Patient History for Multiple Endocrine Neoplasia]
Patient History for Multiple Endocrine Neoplasia
  

Test Mnemonic: MEN2 SEQ
Methodology: Polymerase Chain Reaction/Sequencing

Performed: Varies

Reported: Within 14 days

Specimen Required:  
Collect: One 5 mL lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B)

Transport: 5 mL whole blood at 2-8°C. (Min: 1 mL)

Pediatric Collection/Transport: 1 mL whole blood at 2-8°C.

Remarks: Do not freeze.

Unacceptable Conditions: Hemolyzed specimens.

Stability: Ambient: 24 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval:
By report

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.



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):
83891 Isolation; 83898 x6 Amplification; 83904 x6 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report