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RET Remaining Exons Sequencing (MEN2A & MEN2B)

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
RET
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Determination of appropriate screening and surgical management
  • Identification of at-risk family members
  • Prenatal diagnosis
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
1793
Turnaround Time:
5-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
Billing Information:
View Billing Policy
ICD Codes:
  • 227: Adrenal gland, Suprarenal gland
  • 193: Malignant neoplasm of thyroid gland, Thyroglossal duct

REFERENCES

  1. Yip, L. et al., Multiple Endocrine Neoplasia Type 2: Evaluation of the Genotype-Phenotype Relationship. Arch Surg. 138: 409-16, 2003
  2. 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
  3. Wiench M et al. Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. J Clin Oncol 19(5):1374-1380, 2001
  4. 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
  5. 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
  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. Heshmati HM, et al. Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance. Mayo Clin Proc 72(5):430-436, 1997

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