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Thank you, Your GeneDx Team
PAX2 Gene Sequencing
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:
- Capillary Sequencing
ORDERING
- Test Code:
- 5213
- Turnaround Time:
- 6-7 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
BILLING
- CPT Codes:
- 81406x1
- Billing Information:
- View Billing Policy
- ICD Codes:
-
- 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
- 583.9: With unspecified pathological lesion in kidney Glomerulitis NOS, Glomerulonephritis NOS, Nephritis NOS, Nephropathy NOS
REFERENCES
- Dureau, P., et al., (2001) Ophthalmology 108(10):1912-1916
- Eccles MR., et al., (1999) Clin Genet 56:1-9
- Cunliffe HE., et al., (1998) J Med Genet 35:806-812
- Raca G., et al., (2011) Genetics in Medicine 13(5):437-442
