Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

Due to inclement weather, GeneDx will be closed for business, and we may be unable to accept specimens on Thursday, March 5, 2015. If you have any questions or inquiries, please call us at 301-519-2100 or email us at

CDC73 (HRPT2) Gene Sequencing



Clinical Utility:
  • Confirm the clinical diagnosis of HPT-JT
  • Determine the genetic etiology of FIHP
  • Identification of germline mutations in patients with apparent sporadic parathyroid carcinoma
  • Differentiation between HPT-JT and other familial endocrine neoplasia syndromes with parathyroid involvement (i.e., multiple endocrine neoplasia type I caused by mutations in the MEN1 gene and multiple endocrine neoplasia type 2 caused by mutations in the RET gene)
  • Identification of relatives at risk for parathyroid malignancy and the clinical manifestations of HPT-JT
  • Establishment of a medical management plan (including surveillance for parathyroid tumors, ossifying tumors, and renal cysts) for at-risk individuals
Lab Method:
Capillary Sequencing


Test Code:
Turnaround Time:
12-14 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube


CPT Codes:
New York Approved:
ABN Required:
Billing Information:
View Billing Policy
ICD Codes:
  • V18.1: Other endocrine and metabolic diseases
  • 194.1: Parathyroid gland
  • 753.1: Cystic kidney disease, unspecified
  • 227.1: Parathyroid gland
  • 213.1: Lower jaw bone
  • 252: Hyperparathyroidism
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  1. Carpten, J. D. et al., HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nature Genet. 32: 676-80, 2002
  2. Shattuck, T. et al., Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med. 349: 1722-9, 2003
  3. Villablanca, A. et al., Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet. 41: e32, 2004
  4. Warner, J. et al., Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 41: 155-60, 2004
  5. Mizusawa, N. et al., Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. Clin Endocrinol. 65: 9-16, 2006

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