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CHARGE syndrome (CHD7)

New York
Approved


Genes

CHD7

Conditions

  • CHARGE Syndrome

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

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code

TB21

CPT Codes*

81407x1

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.