Familial Medullary Thyroid Cancer

FMTC (Familial Medullary Thyroid Carcinoma) is diagnosed in families with four cases of medullary thyroid carcinoma (MTC) in the absence of pheochromocytoma or parathyroid adenoma. The medullary thyroid cancer associated with FMTC is typically later onset and may be subclinical; therefore, in some families RET genetic testing may be necessary to differentiate sporadic medullary thyroid cancer from FMTC.

Tests Available

Forms and Documents

Test Details

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


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


  • 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
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