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.

GUCY2D Select Exons Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
GUCY2D
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:
467
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 743.56: Other retinal changes, congenital
  • 743.55: Congenital macular changes
  • 743.53: Chorioretinal degeneration, congenital
  • 743.54: Congenital folds and cysts of posterior segment
  • 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
* For price inquiries please email zebras@genedx.com

REFERENCES

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