Free the Data!
Please consider submitting BRCA1/2 testing results from your patients to www.sharingclinicalreports.org.
See: http://nyti.ms/14hUJsu for an explanation of the issue.
Thank you, Your GeneDx Team
LCA Tier 1
FORMS AND DOCUMENTS
TEST DETAILS
- Genes:
- AIPL1, CEP290, CRB1, 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:
- 2980
- Turnaround Time:
- 6-8 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
BILLING
- CPT Codes:
- 81479x1
- List Price:
- $2,200.00
- Billing Information:
- View Billing Policy
- ICD Codes:
-
- 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
- 362.76: Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
REFERENCES
- den Hollander AI (2008) Progress in Retinal and Eye Research 27:391-419
- Hanein S (2004) Hum Mutat 23:306-317
- Booij J (2007) J Med Genet 42:67-75
- Stone E (2007) Am J Ophthalmol 144(6):791-811
- Koenekoop R (2007) Clin and Experimental Ophthalmology 35:473-485
- Browne SJ (2006) Invest Ophthalmol Vis Sci 47(1):34-42
- den Hollander AI (2006) Am J Hum Genet 79(3):556-61
- Ito S (2004) Invest Ophthalmol Vis Sci 45(5):1480-5
- Sohocki (2000) Mol. Genet. Metab. 70, 142–150
- Bernal S (2003) J Med Genet 40:e89
- den Hollander (1999) Nat Genet 23:217–221
- den Hollander (2004) Hum Mutat 24:355-69
- den Hollander (2001) Am J Hum Genet 69:198–203
- Morimura H (1998) Proc Natl Acad Sci 95:3088–3093
- Koenekoop (2005) Ophthalmic Genetics 26:175-179
