CDC73 (HRPT2) Select Exons Sequencing

Forms and Documents

Test Details

  • 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
  • Capillary Sequencing


4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Brushes


  • 753.1 Cystic kidney disease Excludes: acquired cyst of kidney (593.2)
  • 252 Disorders of parathyroid gland Excludes: hungry bone syndrome (275.5)
  • 213.1 Lower jaw bone
  • v18.1 Other endocrine and metabolic diseases
  • 194.1 Parathyroid gland
  • 227.1 Parathyroid gland
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  1. Mizusawa, N. et al., Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. Clin Endocrinol. 65: 9-16, 2006
  2. Warner, J. et al., Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 41: 155-60, 2004
  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. Carpten, J. D. et al., HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nature Genet. 32: 676-80, 2002
  5. 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