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.

TBX1 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
TBX1, TBX1
Disorders:
Clinical Utility:
  • Confirmation of the clinical diagnosis if FISH testing for the common 3Mb deletion of 22q11.2 is negative
  • Differential diagnosis between syndromes that have developmental delay and other dysmorphic features
  • Development of an appropriate evaluation and management plan
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
MLPA

ORDERING

Test Code:
904
Turnaround Time:
4-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
88271x10, 88291x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 759.8: Other specified anomalies
  • 315.9: Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
  • 315.3: Developmental speech or language disorder
  • 749: Cleft palate
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. DECIPHER database: https://decipher.sanger.ac.uk/application/syndrome/16
  2. Zweier, C. et al. (2007) Am J Hum Genet. 80(3): 510-517
  3. Torres-Juan, L. et al. (2007) European J of Human Genet. 15: 658-663
  4. Solot, C. et al. (2000) J Commun Disord. 33:187-204
  5. Yagi, H. et al. (2003) The Lancet. 362: 1366-1373;
  6. Sullivan, K. et al. (1998) Clin Immun Immunopath. 86(2): 141-146
  7. McDonald-McGinn, D. et al. (2001) Genet Med. 3(1): 23-29
  8. Paylor, R. et al. (2006) www.pnas.org. 103(20): 7729-7734

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