Multiple endocrine neoplasia type 2 (MEN2) testing

Last updated: Wednesday, 11, March, 2009

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Item Process
Specimen

10-20 mL blood in EDTA tube.

Method

PCR-based analysis to detect mutations within the RET gene.

Application

Used in conjunction with endocrine studies to diagnose MEN2 and to identify affected family members prior to clinical presentation.

Interpretation

Current laboratory methods detect over 95% of the mutations in the RET gene.

The identification of one of the characteristic mutations within the RET gene is diagnostic for MEN2, but does not predict the age of onset.

Molecular genetic studies may be indicated in other family members.

ReferenceLips CJ et al. N Engl J Med 1994; 331: 828-835.