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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

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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