Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

CRX Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
CRX
Disorders:
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:
Capillary Sequencing

ORDERING

Test Code:
353
Turnaround Time:
5-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

BILLING

CPT Codes:
81404x1
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
  • 362.75: 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
  • 743.53: Chorioretinal degeneration, congenital
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Michaelides et al., (2005) Ophthalmology 112:1442-1447
  2. Kitiratschy et al., (2009) Human Mutation 30:E782-E796
  3. Downes et al., (2001) Arch Ophthalmol 119:96-105
  4. Klevering B J et al., (2004) Eur J Hum Genet.12(12):1024-32
  5. Cremers F P M et al., (1998) Hum Molec Genet 7: 355-362
  6. Allikmets, et al (1998) Gene 215: 111-122
  7. Boon CJ et al., (2008) Prog Retin Eye Res 27:213-35
  8. Sohocki et al., (2000) Mol Genet Metab 70:142–150
  9. Lotery AJ (2000) Arch Ophthalmol]. 118(4):538-43
  10. Freund CL et al., (1997) Cell. 91(4):543- 553
  11. Rivolta C et al., (2001) Hum Mutat 18: 488-498
  12. Hamel CP et al., (2007) Orphanet J Rare Dis (1)2:7
  13. Kitiratschky et al., (2008) Invest Ophthalmol Vis Sci 49:5015

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