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ABCA4 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ABCA4
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Determine if a sporadic case is recessive or dominant (de novo)
  • Carrier testing for family members of an affected individual with known mutation(s)
  • Prenatal diagnosis in at-risk pregnancies
  • Presymptomatic testing
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:
  • 362.75: Other dystrophies
  • 743.56: Other retinal changes, congenital
  • 743.53: Chorioretinal degeneration, congenital
  • 362.76: Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 743.54: Congenital folds and cysts of posterior segment
  • 743.55: Congenital macular changes
  • 362.74: Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Michaelides et al., (2005) Ophthalmology 112:1442-1447
  2. Kitiratschy et al., (2009) Human Mutation 30:E782-E796
  3. Klevering B J et al., (2004) Eur J Hum Genet.12(12):1024-32
  4. Downes et al., (2001) Arch Ophthalmol 119:96-105
  5. Allikmets, et al (1998) Gene 215: 111-122
  6. Cremers F P M et al., (1998) Hum Molec Genet 7: 355-362
  7. Boon CJ et al., (2008) Prog Retin Eye Res 27:213-35
  8. Sohocki et al., (2000) Mol Genet Metab 70:142–150
  9. Lotery AJ (2000) Arch Ophthalmol]. 118(4):538-43
  10. Hamel CP et al., (2007) Orphanet J Rare Dis (1)2:7
  11. Freund CL et al., (1997) Cell. 91(4):543- 553
  12. Rivolta C et al., (2001) Hum Mutat 18: 488-498
  13. Kitiratschky et al., (2008) Invest Ophthalmol Vis Sci 49:5015

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