Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

MEN1 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
MEN1
Disorders:
Clinical Utility:
  • 1. Confirmation of a clinical diagnosis
  • 2. To differentiate MEN1-related FIHP from other causes (mutations in CASR or HRPT2 genes)
  • 3. Identification of at-risk family members
  • 4. To determine appropriate surveillance and treatment protocols
  • 5. Prenatal diagnosis
Lab Method:
MLPA

ORDERING

Test Code:
904
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 227: Adrenal gland, Suprarenal gland
  • 227.1: Parathyroid gland
  • 227.3: Pituitary gland and craniopharyngeal duct (pouch), Craniobuccal pouch, Hypophysis Rathke's pouch, Sella turcica
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Pannett, AA. et al. Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol. 58:639-646, 2003
  2. Villablanca, A. et al. Involvement of the MEN1 locus in familial isolated hyperparathyroidism. Eur J Endocrinol. 147: 313-322, 2002
  3. Warner, J. et al. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 41:155-160, 2004
  4. Klein, RD. et al. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genet Med. 7:131-138, 2005
  5. Cavaco, BM. et al., Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions. Clin Endocrinol. 56:465-473, 2002
  6. Bergman, L. et al., Identification of MEN1 gene mutations in families with MEN1 and related disorders. Br J Cancer. 62:1009-1014, 2000
  7. Giraud, S. et al., Germ-Line Mutation Analysis in Patients with Multiple Endocrine Neoplasia Type 1 and Related Disorders. Am J Hum Genet. 63: 455-467, 1998
  8. Bassett J.H.D., et al., Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1. Am J Hum Genet. 62: 232- 244, 1998
  9. Agarwal S. et al., Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type1 and related states. Hum Mol Genet. 6: 1169-1175, 1997

Back To Top