Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

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

FZD4 Del/Dup



Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Differential diagnosis includes retinopathy of prematurity (ROP), Coats disease, persistent fetal vasculature syndrome, Norrie’s disease, and idiopathic retinal detachment.
  • Prenatal diagnosis in families, in which the pathogenic mutation(s) have been identified
Lab Method:
Exon Array CGH


Test Code:
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube


CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
ABN Required:
Billing Information:
View Billing Policy
ICD Codes:
  • 362.12: Exudative retinopathy Coats' syndrome
  • 362.13: Changes in vascular appearance, Vascular sheathing of retina
  • 362.16: Retinal neovascularization NOS, Neovascularization: choroidal subretinal
* For price inquiries please email


  1. Kondo H (2003) Br J Ophthalmol; 87:1291–1295
  2. Toomes C et al., (2004) Am J Hum Genet; 74: 721–30
  3. Jiao X (2004) Hum. Genet. 75:878–884
  4. Nallathambi J et al., (2006) Mol Vis; 12: 1086–92
  5. Qin M et al., (2005) Hum Mutat; 26(2):104-12
  6. Riveiro-Alvarez R et al., (2005) Molec Vis 11:705-712
  7. Kondo H et al., (2007) IOVS 48:1276-1282
  8. Dickinson J et al., (2006) Clin and Exp Ophthalmol 34:682-688
  9. Chung et al., (2008) Hum Mutat 30:4, 641-648

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