Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

FZD4 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
FZD4
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

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
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 zebras@genedx.com

REFERENCES

  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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