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GUCY2D Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
GUCY2D
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:
377
Turnaround Time:
5-7 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 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
  • 362.75: Other dystrophies
* For price inquiries please email zebras@genedx.com

REFERENCES

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

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