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OFD1 Select Exons Sequencing

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:
Capillary Sequencing

ORDERING

Test Code:
3641
Turnaround Time:
5-6 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:
  • 759.89: Other Congenital malformation syndromes affecting multiple systems
  • 749: Cleft palate
  • 749.1: Cleft lip Cheiloschisis Congenital fissure of lip Harelip Labium leporinum
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REFERENCES

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

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