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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
CRX Del/Dup
FORMS AND DOCUMENTS
TEST DETAILS
- Genes:
- CRX
- Clinical Utility:
-
- Confirmation of a clinical diagnosis
- Determine if a sporadic case is recessive or dominant (de novo)
- Carrier testing for family members of an affected individual with known mutation(s)
- Prenatal diagnosis in at-risk pregnancies
- Presymptomatic testing
- Lab Method:
- Exon Array CGH
ORDERING
- Test Code:
- 906
- Turnaround Time:
- 3-4 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
BILLING
- CPT Codes:
- 84311x1, 88271x10, 88291x1
- List Price:
- $500.00
- Billing Information:
- View Billing Policy
- ICD Codes:
-
- 743.53: Chorioretinal degeneration, congenital
- 362.76: Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
- 362.75: Other dystrophies
- 743.56: Other retinal changes, congenital
- 743.54: Congenital folds and cysts of posterior segment
- 362.74: Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
- 743.55: Congenital macular changes
REFERENCES
- Kitiratschky et al., (2008) Invest Ophthalmol Vis Sci 49:5015
- Hamel CP et al., (2007) Orphanet J Rare Dis (1)2:7
- Rivolta C et al., (2001) Hum Mutat 18: 488-498
- Freund CL et al., (1997) Cell. 91(4):543- 553
- Lotery AJ (2000) Arch Ophthalmol]. 118(4):538-43
- Sohocki et al., (2000) Mol Genet Metab 70:142–150
- Boon CJ et al., (2008) Prog Retin Eye Res 27:213-35
- Allikmets, et al (1998) Gene 215: 111-122
- Cremers F P M et al., (1998) Hum Molec Genet 7: 355-362
- Klevering B J et al., (2004) Eur J Hum Genet.12(12):1024-32
- Downes et al., (2001) Arch Ophthalmol 119:96-105
- Michaelides et al., (2005) Ophthalmology 112:1442-1447
- Kitiratschy et al., (2009) Human Mutation 30:E782-E796
