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.

SOX9 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
SOX9
Disorders:
Clinical Utility:
  • Confirmation of the clinical diagnosis
  • To differentiate CD from other skeletal dysplasias such as osteogenesis imperfecta (OI), thanatophoric dysplasia, spondyloepiphyseal dysplasia congenita, and others
  • Prenatal diagnosis for a known familial mutation
  • Prenatal diagnosis when ultrasound findings are suggestive of campomelic dysplasia
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
338
Turnaround Time:
6-8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

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
  • 754.44: Congenital bowing of unspecified long bones of leg
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Mansour et al., (1995) J Med Genet 32:415-420; Mansour et al., (2002) J Med Genet 39:597-602
  2. Wagner et al., (Cell) 79:1111-1120. Cameron et al., (1996) Hum Mol Genet 5(10):1625-1630
  3. Smyk et al., (2007) Am J Med Genet 143A(8):866-870
  4. Pop et al., (2004) J Med Genet 41:e47
  5. Meyer et al., (1997) Hum Mol Genet 6(1):91-98
  6. Pop et al. (2005) Hum Genet 117:43-53
  7. Huang et al., (1999) Am J Med Genet 87:349-353
  8. Refai et al., (2010) Am J Med Genet A 152A:422-426.Moog et al., (2001) Am J Med Genet 104:239-245

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