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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:
84311x1, 88271x10, 88291x1
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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