Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

TINF2 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
TINF2
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:
84311x1, 88271x10, 88291x1
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. Walne AJ et al, TINF2 Mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. 2008, Blood 112:3594-3600
  2. Savage SA et al, TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita. 2008, The American Journal of Human Genetics 82:501-509

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