Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

GUCY2D Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
GUCY2D
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
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 362.75: Other dystrophies
  • 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
  • 743.54: Congenital folds and cysts of posterior segment
  • 743.55: Congenital macular changes
  • 743.53: Chorioretinal degeneration, congenital
* For price inquiries please email zebras@genedx.com

REFERENCES

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

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