Parathyroid Carcinoma

Mutations in the CDC73 (HRPT2) gene are the cause of two related genetic disorders resulting in hyperparathyroidism. Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT) is a multiple endocrine neoplasia syndrome characterized by primary hyperparathyroidism due to tumors of the parathyroid gland, ossifying fibromas of the maxilla or mandible (in 30% of affected individuals) , and renal involvement in some patients (bilateral cysts and less frequently solid tumors such as hamartomas and Wilms tumor). The risk of malignancy of the parathyroid glands in HPT-JT has been estimated to be 15%. Familial Isolated Hyperparathyroidism (FIHP) is a nonsyndromic disorder characterized by the presence of multiple family members with hyperparathyroidism.

Tests Available

Forms and Documents

Test Details

  • An individual with primary hyperparathyroidism and ossifying fibroma(s) of the jaw
  • An individual with early-onset primary hyperparathyroidism (age <45 years)
  • Children diagnosed with ossifying fibroma(s) of the maxilla or mandible
  • An individual with sporadic and/or early-onset parathyroid carcinoma or adenoma
  • An individual with primary hyperparathyroidism or ossifying jaw fibromas and a personal or family history of features associated with Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT) such as renal cysts or tumors
  • Familial primary hyperparathyroidism with negative genetic testing for multiple endocrine neoplasia type 1 (MEN1)
  • An unaffected individual with a family history suggestive of CDC73 related conditions (see above) when an affected individual is unavailable for his or her own genetic testing.


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


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