Multiple endocrine neoplasia is part of a group of disorders that affect the endocrine system. This disorder greatly increases the risk of developing multiple cancerous and noncancerous tumors in glands such as the parathyroid, pituitary, and pancreas. Multiple endocrine neoplasia occurs when tumors are found in at least two of the three main endocrine glands. Tumors can also develop in organs and tissues other than endocrine glands. If the tumors become cancerous, some cases can be life-threatening. The disorder affects 1 in 30,000 people.
||Also known as MEN-1 or Wermer's syndrome. Affected people are born with 1 mutated copy of MEN1 gene in each cell, during their lifetime the other copy of the gene is mutated. This mutation causes cells to divide with little control resulting in tumors.
||Autosomal dominant disorder 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).
Purpose: Confirm a genetic basis for cancer/Identify at-risk family members
Methodology: Next-Generation Sequencing
Test Requisition: Sequencing Requisition
Specimen Requirements: 2-5 mL Blood-Lavender Top Tube
Panel CPT Codes: 81405x2 Cost: $1500.00 (Oklahoma Medicaid requires preauthorization for this test)
Turn-around-time: 6 weeks
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3. Gardner, E., Papi, L., Easton, D. F., Cummings, T., Jackson, C. E., Kaplan, M., et al. (1993)” Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2”. Hum. Molec. Genet. 2: 241-246.
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