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.

TMEM127 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
TMEM127
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Differentiation of PGL/PCC syndrome from other hereditary cancer predisposition syndromes, such as MEN2, VHL and NF1 Identification of family members at-risk for paraganglioma/pheochromocytoma
  • Genetic counseling and recurrence risk assessment
  • Prenatal diagnosis in families with a known mutation
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
555
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 194: Adrenal gland, Adrenal cortex, Adrenal medulla, Suprarenal gland
  • 255.6: Medulloadrenal hyperfunction, Catecholamine secretion by pheochromocytoma
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Baysal et al. (2002) J Med Genet 39(3):178-83.
  2. Gimenez-Roqueplo AP. (2006) Ann N Y Acad Sci 1073:112-21.
  3. Pasini et al. (2008) Eur J Hum Genet 16:79-88.
  4. Ni et al. (2008) Am J Hum Genet 83:261-8.
  5. Taschner et al., (2001) Genes Chromosomes Cancer 31:274–81.
  6. Baysal et al. (2004) J Med Genet 41(9):703-9.
  7. Cascon et al. (2006) Genes Chromosomes Cancer 45(3):213-9.
  8. Badenhop et al. (2004) J Med Genet 41:e99.
  9. McWhinney et al. (2004) J Clin Endocrinol Metab 89(11):5694-9.
  10. Ricketts et al. (2008) J Natl Cancer Inst 100:1260-2.
  11. Neumann et al. (2009) Cancer Res 69:3650-6.
  12. Mannelli et al. (2009) J Clin Endocrinol Metab 94(5):1541-7.
  13. Schiavi et al. (2005) JAMA 294:2057-63.
  14. Amar et al. (2005) J Clin Oncol 23:8812-8.
  15. Jimenez et al. (2006) J Clin Endocrinol Metab 91:2851-8.
  16. Hao et al. (2009) Science 235:1139-42.
  17. Bayley et al. (2010) Lancet Oncol 11:366-72.
  18. Burnichon et al. (2010) Hum Mol Genet 19(15):3011-20.
  19. Korpershoek et al., (2011) J Clini Endocrin Metab 96(9):Epub.
  20. Yao et al., (2010) JAMA 304(23):2611-2619.
  21. Neumann et al., (2011) J Clin Endocrinol Metab 96(8):Epub.
  22. Qin et al., (2010) Nat Genet 42(3):229-233.
  23. Jiang and Dahia, (2011) Endocrinol 152(6):Epub.

Back To Top