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.

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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