Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

CDC73 (HRPT2) Select Exons Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
CDC73 (HRPT2)
Disorders:
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

ORDERING

Test Code:
1731
Turnaround Time:
6-7 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 213.1: Lower jaw bone
  • 252: Hyperparathyroidism
  • V18.1: Other endocrine and metabolic diseases
  • 194.1: Parathyroid gland
  • 753.1: Cystic kidney disease, unspecified
  • 227.1: Parathyroid gland
* For price inquiries please email zebras@genedx.com

REFERENCES

  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

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