Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

TERC Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
TERC
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis.
  • Carrier testing for family members of the affected patient
  • Confirmation that a potential hematopoietic stem cell transplant donor is not affected
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 284: Constitutional aplastic anemia
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Vulliamy TJ, et al, Mutations in dyskeratosis congenita, Blood 107:2680-2685, 2006.
  2. Vulliamy TJ, et al, The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenital, 2001, Nature 413:432
  3. He J, et al, Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenital causes embryonic lethality in mice. 2002, Oncogene 21:7740
  4. Goldman F et al, The effect of TERC haploinsufficiency on the inheritance of telomere length, 2005, PNAS 102:17119

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