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Thank you, Your GeneDx Team
UBE3A Gene Sequencing
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:
- 374
- Turnaround Time:
- 6-7 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
BILLING
- CPT Codes:
- 81406x1
- List Price:
- $2,000.00
- Billing Information:
- View Billing Policy
- ICD Codes:
-
- 315.3: Developmental speech or language disorder
- 315.9: Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
REFERENCES
- Malzac, P., et al, (1998) Am J Hum Genet 62(6):1353-1360
- Gillfillan G et al., Am. J. Hum. Genet. 82(4): 1003- 1010, 2008
- Schroer R., et al. Am J Med Genet. (2009) 152A:2775-2783
- Boyes L., et al. Eur J Med Genet. (2006) 49(6):472-80
- Fichou et al. European Journal of Human Genetics (2009) 17, 1378–1380
- Russo, S., et al, (2000) Hum Mutan 15(4):387-393
- Clayton-Smith, J., et al (2003) J Med Genet 40(2):87-95
- Christianson A et al. Am J. Hum Genet. 36:759-766, 1999
- 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
- Hitchins, M.P., et al, (2004) Am J Med Genet 125A(2):167-172
- Lossie, A.C., et al, (2001) J Med Genet 38(12):834-845
- Fang, P., et al, (1991) Hum Molec Genet 8(1):129-135
