Johns Hopkins DNA Diagnostic Laboratory

PLEASE NOTE: Informed consent from the patient is required prior to ordering a genetic test. The DNA Diagnostic Lab's consent is located on the second page of the requisition form. There is also a patient brochure, "Things Every Patient Should Know Before Consenting to a Genetic Test", available for download.

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Multiple Endocrine Neoplasia, Type 2B (MEN 2B)  

Gene:    RET 
Test:   Direct mutation analysis by gene sequencing of the coding regions the RET gene, exons 8, 10, 11, 13, 14, 15, 16
     
Clinical Description:   MEN 2B is characterized by medullary thyroid carcinoma and an increased risk for pheochromocytoma.  Patients also have a 'Marfanoid' body habitus and increased risk for neuromas of the lips and tongue and intestinal ganglioneuromatosis. 
   
Inheritance Pattern:   Autosomal Dominant
CPT Codes:
 


838891 x 1
83898 x 7
83904 x 14
83909 x 14
83912 x 1

Sensitivity:   At least 96% of patients with MEN 2B will have a RET gene mutation detectable by this test panel
Cost:   $1022
Turn Around Time:    4 weeks
Special Considerations:   Clinical history on affected individual is requested.  
     

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