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PAX6 Gene Sequencing & Del/Dup Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
DCDC1, ELP4, PAX6, WT1
Disorders:
Clinical Utility:
  • Confirmation of clinical diagnosis
  • Determination of the molecular basis of aniridia in patients at risk for Wilms tumor (Differentiating PAX6 related aniridia from WAGR syndrome)
  • Prenatal diagnosis
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
491
Turnaround Time:
8-10 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1, 88271x10, 88291x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 743.9: Unspecified anomaly of eye
  • 743.45: Aniridia
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Glaser T et al. (1994) Nat Genet 7:463
  2. Tzoulaki I et al. BMC Genetics (2005) 6:27
  3. Gronskov K et al. (2001) Hum Genet 109:11
  4. Vincent MC et al. (2002) Eur J of Hum Genet 11:163
  5. Redeker EJ et al, (2008); Mol Vis. May 7;14:836-40

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