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Stargardt Sequencing Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ABCA4, ELOVL4, RDS (PRPH2)
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:
Next-gen Sequencing

ORDERING

Test Code:
466
Turnaround Time:
6-8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81408x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 743.55: Congenital macular changes
  • 362.76: Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 743.53: Chorioretinal degeneration, congenital
  • 743.56: Other retinal changes, congenital
  • 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

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  20. Rivera A et al., (2000) Am J Hum Genet 67:800-813
  21. Shroyer et al., (2001) Hum Molec Genet 10:2671-2678
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  24. De La Paz et al., (1999) Ophthalmology 106:1531-1536
  25. Stone EM et al., (1998) Nat Genet 20:328-329
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  27. Allikmets et al., (1998) Gene 215: 111-122
  28. Allikmets et al., (1997) Science 19;277(5333):1805-7

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