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CHD7 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
CHD7
Disorders:
Clinical Utility:
  • Confirmation of the clinical diagnosis
  • Differential diagnosis from the 22q11 deletion spectrum (VCFS/DiGeorge syndrome), VACTERL
  • association, PAX2 mutations and Retinoic embryopathy
  • Development of appropriate evaluation and management plan
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
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Stromland et al., (2005) Am J Med Genet 133A:331-339
  2. Vissers et al., (2004) Nat Genet 36:955- 957
  3. Jongmans et al., (2006) J Med Genet 43:306-314
  4. Lalani et al., (2006) Am J Hum Genet 78:303-314

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