Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

GUCA1A Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
GUCA1A
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
476
Turnaround Time:
6-7 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 743.55: Congenital macular changes
  • 743.53: Chorioretinal degeneration, congenital
  • 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
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Cremers F P M et al., (1998) Hum Molec Genet 7: 355-362
  2. Klevering B J et al., (2004) Eur J Hum Genet.12(12):1024-32
  3. Sohocki et al., (2000) Mol Genet Metab 70:142–150
  4. Boon CJ et al., (2008) Prog Retin Eye Res 27:213-35
  5. Allikmets, et al (1998) Gene 215: 111-122
  6. Freund CL et al., (1997) Cell. 91(4):543- 553
  7. Lotery AJ (2000) Arch Ophthalmol]. 118(4):538-43
  8. Rivolta C et al., (2001) Hum Mutat 18: 488-498
  9. Kitiratschky et al., (2008) Invest Ophthalmol Vis Sci 49:5015
  10. Hamel CP et al., (2007) Orphanet J Rare Dis (1)2:7
  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
  14. Littink et al., (2010) Invest Ophthalmol Vis Sci 51(11):5943-5951
  15. Wissinger et al., (2001) Am J Hum Genet 69:722-737
  16. Wissinger et al., (2001) Am J Hum Genet 69:722-737
  17. Thiadens et al., (2010) Ophthalmology 117(4):825- 30

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