EYA1 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

EYA1
  • Confirmation of a clinical diagnosis
  • Differential diagnosis between other branchio and/or oto multiple malformation syndromes
  • Risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing
  • Exon Array CGH

Ordering

315E
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81406x1
No
Yes
  • 744.02 Other anomalies of external ear with impairment of hearing Atresia or stricture of auditory canal (external)
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
  • 744.2 Other specified anomalies of ear
* For price inquiries please email zebras@genedx.com

References

  1. Chang E. et. al. (2004). Hum Mutat 23:582-89.
  2. Smith, R. Branchiootorenal Syndrome. (Mar 2008).
  3. Fraser F et. al. (1980) Am J Med Genet 7: 341-349.
  4. Kochhar, A. et. al. (2008) Hum Mutat Mutation in Brief #999 Online.
  5. Sanggaard, K. et al. (2007) Eur J Hum Genet. 15:1121-1131.
  6. Stockley, T. et al. (2008) Am J Med Genet 149A:322-327.
  7. Ruf, R. et. al. (2004) PNAS. 101(21):8090-8095.