Multiple Endocrine Neoplasia 2B

This disorder is characterized by multiple mucosal neuromas of the lips, tongue, and conjunctiva. Patients often have a tall, thin, Marfanoid body habitus. Muscle wasting and weakness are a complication. Gastrointestinal symptoms secondary to ganglioneuromas and colonic diverticula are observed. MEN2B is associated with an increased risk of malignancy, including pheochromocytoma (50% of patients) and medullary thyroid carcinoma (100% penetrance).

Tests Available

Forms and Documents

Test Requisition

Test Details

  • Confirmation of a clinical diagnosis
  • Determination of appropriate screening and surgical management
  • Identification of at-risk family members
  • Prenatal diagnosis

Ordering

TB20
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
Yes
Yes
  • 227 Benign neoplasm of other endocrine glands and related structures Use additional code to identify any functional activity Excludes: ovary (220) pancreas (211.6) testis (222.0)
  • 193 Malignant neoplasm of thyroid gland, Thyroglossal duct
For price inquiries please email zebras@genedx.com

**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.

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • An individual with a personal history and family history of tumors and features associated with Multiple Endocrine Neoplasia type 2 (MEN2) such as medullary thyroid cancer, hyperparathyroidism, pheochromocytoma, Hirschsprung disease and cutaneous lichen amyloidosis
  • An individual with a personal and/ or family history of a medullary thyroid cancer
  • An individual with a personal history suggestive of MEN2B which may include features such as marfanoid habitus, mucosal neuromas of the lips and tongue and ganglioneuromas of the intestine
  • An individual with apparent non-syndromic Hirschsprung disease
  • An unaffected individual with a family history suggestive of MEN2 (see above) when an affected individual is unavailable for his or her own genetic testing

Ordering

1771
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply)

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**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.

References

  1. Mulligan, L.M. et al., Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium. J Intern Med. 238: 343-6, 1995.
  2. Elisei, R et al., RET genetic screening in patients with medullary thyroid cancer and their relatives: Experience with 807 individuals at one center. J Clin Endocrinol Metab 92(12)4725-4729, 2007.
  3. Heshmati HM, et al. Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance. Mayo Clin Proc 72(5):430-436, 1997.
  4. Wiench M et al. Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. J Clin Oncol 19(5):1374-1380, 2001.
  5. Shirahama S et al. Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma. J Hum Genet 43:101-106, 1998.
  6. Mulligan, L.M. et al., Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet. 6: 70-4, 1994.
  7. Eng, C. et al., Point mutation within the tyrosine kinase domain of the RET-proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumors. Hum Mol Genet. 3: 237-41, 1994.
  8. Gimm, O. et al., Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. J Clin Endocrinol Metab. 82: 3902-4, 1997.
  9. Yip, L. et al., Multiple Endocrine Neoplasia Type 2: Evaluation of the Genotype-Phenotype Relationship. Arch Surg. 138: 409-16, 2003.