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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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