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 email@example.com.
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:
- Capillary Sequencing|Exon Array CGH
- 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.