Rett/Angelman Syndrome Panel
New York
Approved
Genes
Conditions
- Angelman syndrome (AS)
- Atypical Rett Syndrome
- Mowat-Wilson Syndrome
- Pitt Hopkins Syndrome
- Rett syndrome
Clinical Utility
- Molecular confirmation of a clinical diagnosis
- To assist with decisions about treatment and management of individuals with epilepsy
- Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
Lab Method
- Next-Gen Sequencing
- Deletion/Duplication Analysis
Important Information
This panel also includes MS-MLPA to evaluate for abnormal methylation of the UBE3A gene.
Test Code
729
CPT Codes*
81404x2, 81405x2, 81406x2, 81479x3, 81302x1, 81304x1
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.
**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.
Test Documents
Billing
For Providers
Targeted Variant Testing