Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

RPE65 Gene Sequencing

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:
Capillary Sequencing

ORDERING

Test Code:
345
Turnaround Time:
6-8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

BILLING

CPT Codes:
81406x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 362.75: Other dystrophies
  • 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
* 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. Sohocki (2000) Mol. Genet. Metab. 70, 142–150
  9. Bernal S (2003) J Med Genet 40:e89
  10. den Hollander (1999) Nat Genet 23:217–221
  11. den Hollander (2004) Hum Mutat 24:355-69
  12. den Hollander (2001) Am J Hum Genet 69:198–203
  13. den Hollander AI (2008) Progress in Retinal and Eye Research 27:391-419
  14. Morimura H (1998) Proc Natl Acad Sci 95:3088–3093
  15. Koenekoop (2005) Ophthalmic Genetics 26:175-179

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