Forms and Documents
- An individual with a personal and/or family history of tumors associated with multiple endocrine neoplasia, type I (MEN1) especially parathyroid tumors, gastro-entero-pancreatic neuroendocrine tumors, and anterior pituitary tumors. Other common features include adrenocortical and carcinoid tumors, facial angiofibromas, collagenomas, ependymomas, leiomyomas, lipomas, and meningiomas
- An individual with multiple primary or multi-focal endocrine tumors
- An individual with a personal and/or family history of isolated parathyroid tumors concerning for familial isolated hyperparathyroidism (FIHP) which may be associated with pathogenic variants in the MEN1 gene, among others
- An unaffected individual with a family history suggestive of MEN1 (see above) when an affected individual is unavailable for his or her own genetic testing
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
- Agarwal S. et al., Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type1 and related states. Hum Mol Genet. 6: 1169-1175, 1997
- Bassett J.H.D., et al., Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1. Am J Hum Genet. 62: 232- 244, 1998
- Giraud, S. et al., Germ-Line Mutation Analysis in Patients with Multiple Endocrine Neoplasia Type 1 and Related Disorders. Am J Hum Genet. 63: 455-467, 1998
- Bergman, L. et al., Identification of MEN1 gene mutations in families with MEN1 and related disorders. Br J Cancer. 62:1009-1014, 2000
- Cavaco, BM. et al., Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions. Clin Endocrinol. 56:465-473, 2002
- Klein, RD. et al. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genet Med. 7:131-138, 2005
- Warner, J. et al. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 41:155-160, 2004
- Villablanca, A. et al. Involvement of the MEN1 locus in familial isolated hyperparathyroidism. Eur J Endocrinol. 147: 313-322, 2002
- Pannett, AA. et al. Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol. 58:639-646, 2003.