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TBX1 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
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:
84311x1, 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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