Multiple endocrine neoplasia type 2
10-20 mL blood in EDTA tube.
PCR-based analysis to detect mutations within the RET gene.
Used in conjunction with endocrine studies to diagnose MEN2 and to identify affected family members prior to clinical presentation.
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.
Lips CJ et al. N Engl J Med 1994; 331: 828-835.