CHARGE syndrome (CHD7)
New York
Approved
Genes
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
Alternative Specimen
*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.
Test Documents
Billing
Targeted Variant Testing