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.

Cone-Rod Dystrophy Sequencing Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ABCA4, RDS (PRPH2)
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:
468
Turnaround Time:
6-8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81408x1, 81404x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 743.53: Chorioretinal degeneration, congenital
  • 743.54: Congenital folds and cysts of posterior segment
  • 362.76: Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75: Other dystrophies
  • 743.56: Other retinal changes, congenital
  • 362.74: Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
  • 743.55: Congenital macular changes
* 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. Sohocki et al., (2000) Mol Genet Metab 70:142–150
  6. Boon CJ et al., (2008) Prog Retin Eye Res 27:213-35
  7. Cremers F P M et al., (1998) Hum Molec Genet 7: 355-362
  8. Allikmets, et al (1998) Gene 215: 111-122
  9. Freund CL et al., (1997) Cell. 91(4):543- 553
  10. Lotery AJ (2000) Arch Ophthalmol]. 118(4):538-43
  11. Hamel CP et al., (2007) Orphanet J Rare Dis (1)2:7
  12. Rivolta C et al., (2001) Hum Mutat 18: 488-498
  13. Kitiratschky et al., (2008) Invest Ophthalmol Vis Sci 49:5015

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