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EYA1 Gene Sequencing & Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
EYA1
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Differential diagnosis between other branchio and/or oto multiple malformation syndromes
  • Risk assessment
  • Prenatal diagnosis
Lab Method:

ORDERING

Test Code:
315E
Turnaround Time:
7-8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81405x1, 81406x1
New York Approved:
No
ABN Required:
Yes
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)
* 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.

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