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)

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


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**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.


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