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OFD1 (CXORF5) Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
OFD1 (CXORF5)
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Identify females that are at risk for PKD to allow for appropriate screening and treatment
  • Differentiation from other types of OFD
  • Prenatal diagnosis
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:
  • 759.89: Other Congenital malformation syndromes affecting multiple systems
  • 749: Cleft palate
  • 749.1: Cleft lip Cheiloschisis Congenital fissure of lip Harelip Labium leporinum
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Prattichizzo, C. et al. 2008. Hum Mutat. 29(10):1237-1246
  2. Ferrante, M. et al. 2001. Am J Hum Genet. 68:569-576
  3. Thauvin-Robinet, C. et al. 2008. Hum Mutat Online. 29:E320-329
  4. Thauvin-Robinet, C. et al. 2006. J Med Genet. 43:54- 61
  5. Nowaczyk, M. et al. 2003. Am J Med Genet. 123A:179-182

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