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.

Stargardt Sequencing Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ABCA4, ELOVL4, 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:
Next-gen Sequencing

ORDERING

Test Code:
466
Turnaround Time:
6-8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81408x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 743.55: Congenital macular changes
  • 362.76: Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 743.53: Chorioretinal degeneration, congenital
  • 743.56: Other retinal changes, congenital
  • 362.75: Other dystrophies
  • 743.54: Congenital folds and cysts of posterior segment
  • 362.74: Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Guymer et al., (2001) Arch Ophthalmol 119(5):745-51
  2. Gamundi MJ et al., (2007) Mol Vision 13:1031–1037
  3. Boon CJ et al., (2008) Prog Retin Eye Res 27:213-35
  4. Dryja et al., (1997) Invest Ophthalmol Vis Sci 38:1972–82
  5. Zhang et al., (2001) Nat Genet 27:89-93
  6. Bernstein et al., (2001) Invest Ophthal Vis Sci 42: 3331-3336
  7. Yatsenko et al, (2003) Hum Mutat 21(6):636-44
  8. Boon CJ et al., (2007) Br J Ophthalmol 91:1504-11
  9. Maugeri et al., (2004) Invest Ophthal Vis Sci 45:4263-4267
  10. Edwards et al., (1999) Am J Ophthalmol 127:426- 435
  11. Valverde et al., (2006) Mol Vis 12:902-908 19.Valverde D et al., (2007) Invest Ophthal Vis Sci 48:985-990
  12. Aleman et al., Invest Ophthalmol Vis Sci 48(3):1319-29
  13. Maugeri et al., (1999) Am J Hum Genet 64:1024-1035
  14. Klevering et al., (2005) Graefes Arch Clin Exp Ophthalmol 243(2):90-100
  15. Wiszniewski W et al., (2005) Hum Mol Genet 1:14(19):2769-78
  16. Rozetet al., (1998) Eur J Hum Genet 6(3):291-5
  17. Klevering et al., (2004) Eur J Hum Genet 12(12):1024-32
  18. Jaakson et al., (2003) Hum Mut 22:395-403
  19. Yatsenkoet al., (2001) Hum Genet 108:(4)346-55
  20. Rivera A et al., (2000) Am J Hum Genet 67:800-813
  21. Shroyer et al., (2001) Hum Molec Genet 10:2671-2678
  22. Allikmets et al., (2000) Am J Hum Genet 67:793-799
  23. Lewis et al., (1999) Am J Hum Genet 64:422-434
  24. De La Paz et al., (1999) Ophthalmology 106:1531-1536
  25. Stone EM et al., (1998) Nat Genet 20:328-329
  26. Cremers et al., (1998) Hum Molec Genet 7:355-362
  27. Allikmets et al., (1998) Gene 215: 111-122
  28. Allikmets et al., (1997) Science 19;277(5333):1805-7

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