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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:
84311x1, 88271x10, 88291x1
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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