Multiple Endocrine Neoplasia Type 2: RET Sequencing

Diagnostic Use

Multiple endocrine neoplasia type 2 (MEN2) is classified into three subtypes: MEN2A, FMTC (familial medullary thyroid carcinoma) and MEN2B. All three subtypes carry a high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B carry an increased risk for pheochromocytoma; MEN2A carries an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN2B include mucosal neuromas of the lips and tongue, distinctive faces with enlarged lips, ganglioneuromatosis of the gastrointestinal tract and an asthenic "Marfanoid" body habitus. The onset of MTC is typically in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC. RET is the only gene known to be associated with MEN type 2. All MEN2 subtypes are inherited in an autosomal dominant manner. Molecular genetic testing of the RET gene identifies disease-causing mutations in 95% of individuals with MEN2A and MEN2B and in about 88% of families with FMTC.


Genetics - Molecular Pathology

Delphic Registration Code


Constituent Tests


medullary thyroid carcinoma
parathyroid adenoma

Turnaround Time

4 weeks

Test Code