Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

arRP Sequencing Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ABCA4, CRB1, EYS, PDE6A, PDE6B, RPE65, USH2A
Disorders:
Clinical Utility:
  • 1. Confirmation of a clinical diagnosis
  • 2. To differentiate ARRP, adRP, and X-linked RP from other forms of retinal dystrophy and retinal degeneration
  • 3. Recurrence risk assessment
  • 4. Prenatal diagnosis
Lab Method:
Next-gen Sequencing

ORDERING

Test Code:
368
Turnaround Time:
6-8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81406x1, 81408x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 362.76: Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 743.55: Congenital macular changes
  • 362.74: Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
  • 743.54: Congenital folds and cysts of posterior segment
  • 362.75: Other dystrophies
  • 743.56: Other retinal changes, congenital
  • 743.53: Chorioretinal degeneration, congenital
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Abd El-Aziz MM et al., (2007) Ann Hum Genet 71:281-94
  2. Abd El-Aziz MM et al., (2008) Nat Genet 40:1285-7
  3. Allikmets et al., (1998) Gene 215: 111-122
  4. Bennett S et al., (2004) Pharmacogenomics 5:433-8
  5. Bernal S et al., (2003) J Med Genet 40:e89
  6. Bo Dreyer (2008) Hum Mutat 29:451
  7. Booij JC (2005) J Med Genet 42:e67
  8. Cremers FPM et al., (1998) Hum Molec Genet 7:355-362
  9. Collin RWJ et al., (2008) Am J Hum Genet 83:594-603
  10. Collin RWJ (2009) ARVO meeting, May3-7, Fort Lauderdale, FL
  11. Danciger M et al., (1995) Genomics 1;30(1):1-7
  12. Danciger M et al., (1996) Mol Vis 2:10
  13. den Hollander et al., (1999) Nat Genet 23:217–221
  14. den Hollander et al., (2001) Am J Hum Genet 69:198–203
  15. den Hollander et al., (2004) Hum Mutat 24:355-69
  16. Dreyer B et al., (2001) Am J Hum Genet 69:228-34
  17. Dreyer B et al., (2008) Hum Mutat 29:451
  18. Dryja TP et al., (1999) Invest Ophthalmol Vis Sci 40:1859-1865
  19. Hanein S et al., (2004) Hum Mutat 23:306-17
  20. Huang SH et al., (1995) Nat Genet 11:468-71
  21. Lotery et al., (2001) Ophthalmic Genet 22:163-9
  22. McLaughlin ME et al., (1993) Nat Genet 4:130-4
  23. McLaughlin ME et al., (1995) Proc Natl Acad Sci 11;92:3249-53
  24. Morimura H et al.,(1998) Proc Natl Acad Sci 95:3088–3093
  25. Pieke Dahl S et al., (1996 ) J Med Genet 33:753-7
  26. Rivolta C et al., (2000) Am J Hum Genet 66:1975–78
  27. Sandberg MA et al., (2008) Invest Ophthalmol Vis Sci 49:5532-9
  28. Seyedahmadi et al, (2004) Exp Eye Res 79:167-73
  29. Stone E (2007) Am J Ophthalmol 144:791-811
  30. Valverde D et al., (1996) Hum Mutat 8(4):393-4
  31. Weston et al., 2000 Am J Hum Genet 66:1199-210
  32. Wiszniewski W et al., (2005) Hum Mol Genet 1;14:2769-78
  33. Dryja et al., (1995) Proc. Natl Acad Sci 92:10177-10181
  34. Zhang et al., (2004) Mol Vis 10:884-889
  35. Paloma et al., (2002) J Med Genet 39:1-4

Back To Top