In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st. If you have any questions or inquiries, please call us at 301-519-2100 or email us at firstname.lastname@example.org.
EYA1 Gene Sequencing & Del/Dup
FORMS AND DOCUMENTS
- Clinical Utility:
- Confirmation of a clinical diagnosis
- Differential diagnosis between other branchio and/or oto multiple malformation syndromes
- Risk assessment
- Prenatal diagnosis
- Lab Method:
- Test Code:
- Turnaround Time:
- 7-8 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- 81405x1, 81406x1
- New York Approved:
- ABN Required:
- Billing Information:
- View Billing Policy
- ICD Codes:
- 744.2: Other specified anomalies of ear
- 759.89: Other Congenital malformation syndromes affecting multiple systems
- 744.02: Other anomalies of external ear with impairment of hearing Atresia or stricture of auditory canal (external)
- Chang E. et. al. (2004). Hum Mutat 23:582-89.
- Smith, R. Branchiootorenal Syndrome. (Mar 2008).
- Fraser F et. al. (1980) Am J Med Genet 7: 341-349.
- Kochhar, A. et. al. (2008) Hum Mutat Mutation in Brief #999 Online.
- Sanggaard, K. et al. (2007) Eur J Hum Genet. 15:1121-1131.
- Stockley, T. et al. (2008) Am J Med Genet 149A:322-327.
- Ruf, R. et. al. (2004) PNAS. 101(21):8090-8095.