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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:
84311x1, 88271x10, 88291x1
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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