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PDE6B Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
PDE6B
Clinical Utility:
  • • Confirmation of a clinical diagnosis
  • • To differentiate ARRP, adRP, and X-linked RP from other forms of retinal dystrophy and retinal degeneration
  • • Recurrence risk assessment
  • • Prenatal diagnosis
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:
  • 743.55: Congenital macular changes
  • 743.56: Other retinal changes, congenital
  • 743.53: Chorioretinal degeneration, congenital
  • 362.76: Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 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. 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. Lotery et al., (2001) Ophthalmic Genet 22:163-9
  6. Paloma et al., (2002) J Med Genet 39:1-4
  7. Zhang et al., (2004) Mol Vis 10:884-889
  8. Dryja et al., (1995) Proc. Natl Acad Sci 92:10177-10181
  9. Weston et al., 2000 Am J Hum Genet 66:1199-210
  10. Wiszniewski W et al., (2005) Hum Mol Genet 1;14:2769-78
  11. Valverde D et al., (1996) Hum Mutat 8(4):393-4
  12. Stone E (2007) Am J Ophthalmol 144:791-811
  13. Seyedahmadi et al, (2004) Exp Eye Res 79:167-73
  14. Sandberg MA et al., (2008) Invest Ophthalmol Vis Sci 49:5532-9
  15. Rivolta C et al., (2000) Am J Hum Genet 66:1975–78
  16. Pieke Dahl S et al., (1996 ) J Med Genet 33:753-7
  17. Morimura H et al., (1998) Proc Natl Acad Sci 95:3088–3093
  18. McLaughlin ME et al., (1995) Proc Natl Acad Sci 11;92:3249-53
  19. McLaughlin ME et al., (1993) Nat Genet 4:130-4
  20. Huang SH et al., (1995) Nat Genet 11:468-71
  21. Hanein S et al., (2004) Hum Mutat 23:306-17
  22. Dryja TP et al., (1999) Invest Ophthalmol Vis Sci 40:1859-1865
  23. Dreyer B et al., (2008) Hum Mutat 29:451
  24. Dreyer B et al., (2001) Am J Hum Genet 69:228-34
  25. den Hollander et al., (2004) Hum Mutat 24:355-69
  26. den Hollander et al., (2001) Am J Hum Genet 69:198–203
  27. den Hollander et al., (1999) Nat Genet 23:217–221
  28. Danciger M et al., (1996) Mol Vis 2:10
  29. Danciger M et al., (1995) Genomics 1;30(1):1-7
  30. Collin RWJ (2009) ARVO meeting, May3-7, Fort Lauderdale, FL
  31. Collin RWJ et al., (2008) Am J Hum Genet 83:594-603
  32. Cremers FPM et al., (1998) Hum Molec Genet 7:355-362
  33. Booij JC (2005) J Med Genet 42:e67
  34. Bo Dreyer (2008) Hum Mutat 29:451
  35. Bernal S et al., (2003) J Med Genet 40:e89

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