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OCRL Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
OCRL
Disorders:
Clinical Utility:
  • 1. Confirmation of clinical or biochemical diagnosis
  • 2. Carrier testing
  • 3. Prenatal diagnosis in at risk pregnancies
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
335
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
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. Hoopes et al., Am J Hum Genet 76:260-267, 2005
  6. 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

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