ARUP's Laboratory Test Directory

Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing : 0051390
[ image for: Patient History for Multiple Endocrine Neoplasia]
Patient History for Multiple Endocrine Neoplasia
  


Mnemonic: MEN2 SEQ

Methodology: Polymerase Chain Reaction/Sequencing
Performed: Varies
Reported: Within 14 days
Specimen Required: Collect:  One 3 mL lavender (EDTA), pink (K2EDTA) or yellow (ACD solution A or B).

Transport:  3 mL whole blood at 2-8°C. (Min: 1 mL)

Stability:  Ambient: 3 days; 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.





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
 
 

 

 

 
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