FZD4 Gene Sequencing

Forms and Documents

Test Details

FZD4
  • 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
  • Capillary Sequencing

Ordering

3271
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Brushes

Billing

81479x1
No
Yes
  • 362.13 Changes in vascular appearance, Vascular sheathing of retina
  • 362.12 Exudative retinopathy Coats' syndrome
  • 362.16 Retinal neovascularization NOS, Neovascularization: choroidal subretinal
* For price inquiries please email zebras@genedx.com

References

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