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 zebras@genedx.com.

RPE65 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
RPE65
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
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:
  • 362.76: 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
  • 362.74: Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
  • 743.55: Congenital macular changes
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Hanein S (2004) Hum Mutat 23:306-317
  2. Booij J (2007) J Med Genet 42:67-75
  3. Stone E (2007) Am J Ophthalmol 144(6):791-811
  4. Koenekoop R (2007) Clin and Experimental Ophthalmology 35:473-485
  5. Browne SJ (2006) Invest Ophthalmol Vis Sci 47(1):34-42
  6. den Hollander AI (2006) Am J Hum Genet 79(3):556-61
  7. Ito S (2004) Invest Ophthalmol Vis Sci 45(5):1480-5
  8. den Hollander AI (2008) Progress in Retinal and Eye Research 27:391-419
  9. Koenekoop (2005) Ophthalmic Genetics 26:175-179
  10. Morimura H (1998) Proc Natl Acad Sci 95:3088–3093
  11. den Hollander (2001) Am J Hum Genet 69:198–203
  12. den Hollander (2004) Hum Mutat 24:355-69
  13. den Hollander (1999) Nat Genet 23:217–221
  14. Bernal S (2003) J Med Genet 40:e89
  15. Sohocki (2000) Mol. Genet. Metab. 70, 142–150

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