Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

AIPL1 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
AIPL1
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • 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:
81479x1
New York Approved:
Yes
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
  • 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. Sohocki (2000) Mol. Genet. Metab. 70, 142–150
  2. Koenekoop (2005) Ophthalmic Genetics 26:175-179
  3. Morimura H (1998) Proc Natl Acad Sci 95:3088–3093
  4. den Hollander (2001) Am J Hum Genet 69:198–203;
  5. )den Hollander (2004) Hum Mutat 24:355-69
  6. den Hollander (1999) Nat Genet 23:217–221
  7. )Bernal S (2003) J Med Genet 40:e89
  8. Ito S (2004) Invest Ophthalmol Vis Sci 45(5):1480-5
  9. den Hollander AI (2006) Am J Hum Genet 79(3):556-61
  10. Browne SJ (2006) Invest Ophthalmol Vis Sci 47(1):34-42
  11. Booij J (2007) J Med Genet 42:67-75
  12. Stone E (2007) Am J Ophthalmol 144(6):791-811
  13. Koenekoop R (2007) Clin and Experimental Ophthalmology 35:473-485
  14. Hanein S (2004) Hum Mutat 23:306-317
  15. den Hollander AI (2008) Progress in Retinal and Eye Research 27:391-419

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