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.

OCRL Del/Dup (Females)

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
OCRL
Disorders:
Clinical Utility:
  • Confirmation of clinical or biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
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:
81479x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 270: Disturbances of amino-acid transport, Cystinosis, Cystinuria, Fanconi (-de Toni) (-Debré) syndrome, Glycinuria (renal) Hartnup disease
  • 277.8: Other specified disorders of metabolism
  • 639.3: Kidney failure Oliguria
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Leahey et al. Hum Mol Genet 4:461-463, 1993
  2. Utsch et al., Am J Kidney Dis 48, 942
  3. Lin et al., Am J Hum Genet 60:1384-1388, 1997
  4. Suchy et al., Hum Mutat 4:2245-2250, 1995
  5. Nussbaum and Suchy, Lowe Syndrome, In CR Scriver, AL Beaudet, WE Sly and D Valle (Eds) Metabolic and Molecular Basis of Inherited Diseases, McGraw-Hill, NY, pp. 6257-6266, 2001
  6. Hoopes et al., Am J Hum Genet 76:260-267, 2005

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