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BEST1 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
BEST1
Clinical Utility:
  • Confirmation of clinical diagnosis
  • To differentiate different type of Bestrophinopathies and other types of macular degeneration
  • Pre-symptomatic testing
  • 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:
  • 743.9: Unspecified anomaly of eye
  • 743.55: Congenital macular changes
  • 362.74: Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
  • 362.75: Other dystrophies
  • 743.56: Other retinal changes, congenital
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Boon et al., (2009) Progress in Retinal and Eye Research 28:187-205
  2. Burgess et al., (2008) Am J Hum Genet 82:19-31
  3. Burgess et al., (2009) J Med Genet 46:620-625
  4. Davidson et al., (2009) Am J Hum Genet 85:581-592
  5. Kramer et al., (2000) Eur J Hum Genet 8:286-292
  6. Kramer et al., (2003) Hum Mutat Mutation in Brief #660 Online
  7. Lafaut et al., (2001) Arch Clin Exp Ophthalmol 239:575-582
  8. Seddon et al., (2001) Ophthalmology 108:2060-2067
  9. White et al., (2000) Hum Mutat 15:301-308
  10. Yardley et al., (2004) Invest Ophthalmol Vis Sci 45:3683-3689

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