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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

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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