Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

PAX2 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
PAX2
Disorders:
Clinical Utility:
  • Confirmation of the clinical diagnosis
  • Differentiation of renal-coloboma syndrome from other coloboma-associated disorders (e.g., morning glory syndrome)
  • Establishment of an appropriate medical management plan
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
4-5 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:
  • 583.9: With unspecified pathological lesion in kidney Glomerulitis NOS, Glomerulonephritis NOS, Nephritis NOS, Nephropathy NOS
  • 743.8: Other specified anomalies of eye
  • 389.1: Sensorineural hearing loss, Perceptive hearing loss or deafness
  • 585.9: Chronic kidney disease, unspecified Chronic renal disease Chronic renal failure NOS, Chronic renal insufficiency
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Dureau, P., et al., (2001) Ophthalmology 108(10):1912-1916
  2. Eccles MR., et al., (1999) Clin Genet 56:1-9
  3. Cunliffe HE., et al., (1998) J Med Genet 35:806-812
  4. Raca G., et al., (2011) Genetics in Medicine 13(5):437-442

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