Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

UBE3A Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
UBE3A
Disorders:
Clinical Utility:
  • Confirmation of clinical diagnosis
  • Targeted testing for a known familial mutation
  • 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:
  • 315.9: Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
  • 315.3: Developmental speech or language disorder
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Schroer R., et al. Am J Med Genet. (2009) 152A:2775-2783
  2. Boyes L., et al. Eur J Med Genet. (2006) 49(6):472-80
  3. Fichou et al. European Journal of Human Genetics (2009) 17, 1378–1380
  4. Russo, S., et al, (2000) Hum Mutan 15(4):387-393
  5. Fang, P., et al, (1991) Hum Molec Genet 8(1):129-135
  6. Clayton-Smith, J., et al (2003) J Med Genet 40(2):87-95
  7. Lossie, A.C., et al, (2001) J Med Genet 38(12):834-845
  8. Hitchins, M.P., et al, (2004) Am J Med Genet 125A(2):167-172
  9. Williams, C.A. Dagli, A.I.and Driscoll, D.J. (Updated September 5, 2008). Angelman Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, Univeristy of Washington, Seattle. 1997-2009. Available at http://www.genetests.org. Accessed March 13, 2009
  10. Christianson A et al. Am J. Hum Genet. 36:759-766, 1999
  11. Gillfillan G et al., Am. J. Hum. Genet. 82(4): 1003- 1010, 2008
  12. Malzac, P., et al, (1998) Am J Hum Genet 62(6):1353-1360

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