Hyperparathyroidism-Jaw Tumor Syndrome

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

CDC73 (HRPT2)
  • 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.

Ordering

721
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Fibroblasts (separate charge for cell culture may apply)

Billing

81479x1
No
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. Masi et al., (2008) Endocr Relat Cancer 15(4):1115-1126.
  2. Carpten, J. D. et al., (2002) Nature Genet 32: 676-80.
  3. Shattuck, T. et al., (2003) N Engl J Med 349: 1722-9.
  4. Villablanca, A. et al., (2004) J Med Genet 41: e32.
  5. Warner, J. et al., (2004)J Med Genet 41: 155-60.
  6. Mizusawa, N. et al., (2006) Clin Endocrinol 65: 9-16.
  7. Cascon et al., (2011) Genes Chromosomes Cancer 50(11):922-929.
  8. Domingues et al., (2012) Clin Endocrinol 76(1):33-38.

Forms and Documents

Test Details

AIP, APC, CASR, CDC73, CDKN1B, CHEK2, DICER1, MEN1, PRKAR1A, PTEN, RET
  • A personal history of endocrine tumors/disorders (such as: hyperparathyroidism, pituitary adenoma, thyroid cancer, carcinoid tumors, or neuroendocrine tumors).
  • A personal history of parathyroid carcinoma.
  • A personal history of multi-glandular hyperparathyroidism.
  • Multiple relatives on the same side of the family diagnosed with endocrine tumors and/or hyperparathyroidism.

Ordering

T828
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81321x1, 81404x1, 81405x1, 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.