Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

RP2 Del/Dup (Females)

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
RP2
Disorders:
Clinical Utility:
  • Confirmation of clinical diagnosis
  • Identification of female carriers for a mutation with a mild phenotype
  • Establish the mode of inheritance
  • Prenatal diagnosis in at risk pregnancies
  • Pre-symptomatic testing
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:
81479x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 362.74: Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
  • 743.55: Congenital macular changes
  • 362.76: Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 743.53: Chorioretinal degeneration, congenital
  • 743.56: Other retinal changes, congenital
  • 362.75: Other dystrophies
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Dandekar et al (2004) Br J Ophthalmol 88:528-532
  2. Prokisch et al., (2007) Investigative Ophthalmology & Visual Science 48:4012-4018
  3. Sharon et al. (2003) Am. J. Hum. Genet. 73:1131-1146.
  4. Garcia-Hoyos et al., (2006) Investigative Ophthalmology & Visual Science 47:3777-3782.
  5. Jin et al., (2006) Molecular Vision 12:1167-1174

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