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.

UBE3A Gene Sequencing & 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:
Capillary Sequencing

ORDERING

Test Code:
546
Turnaround Time:
6-7 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81406x1, 81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Neurology 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. Boyes L., et al. Eur J Med Genet. (2006) 49(6):472-80
  2. Fichou et al. European Journal of Human Genetics (2009) 17, 1378–1380
  3. Clayton-Smith, J., et al (2003) J Med Genet 40(2):87-95
  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. Hitchins, M.P., et al, (2004) Am J Med Genet 125A(2):167-172
  7. Lossie, A.C., et al, (2001) J Med Genet 38(12):834-845
  8. 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
  9. Malzac, P., et al, (1998) Am J Hum Genet 62(6):1353-1360
  10. Gillfillan G et al., Am. J. Hum. Genet. 82(4): 1003- 1010, 2008
  11. Christianson A et al. Am J. Hum Genet. 36:759-766, 1999
  12. Schroer R., et al. Am J Med Genet. (2009) 152A:2775-2783

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