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.

LCA Tier 3

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:
2982
Turnaround Time:
5-7 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
  • 362.76: Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.74: Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
  • 743.56: Other retinal changes, congenital
  • 743.55: Congenital macular changes
  • 743.53: Chorioretinal degeneration, congenital
* For price inquiries please email zebras@genedx.com

REFERENCES

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

Back To Top