Rett/Angelman Syndrome Panel

Concurrent analysis of multiple genes associated with Rett syndrome, Angelman syndrome, or related disorders characterized by epilepsy, developmental delay, regression, movement disorders, and intellectual disability. This testing includes methylation analysis of the  UBE3A gene. 

NY Approved

Test Overview

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

Test Details

Genes

ATRX, CDKL5, CNTNAP2, CTNNB1, DDX3X, DYRK1A, EHMT1, FOXG1, GABBR2, IQSEC2, KCNA2, MBD5, MECP2, MEF2C, NRXN1, PCDH19, SATB2, SHANK3, SLC9A6, STXBP1, TBL1XR1, TCF4, UBE3A, WDR45, ZEB2

Conditions

  • Angelman syndrome (AS)
  • Atypical Rett Syndrome
  • Mowat-Wilson Syndrome
  • Pitt Hopkins Syndrome
  • Rett syndrome

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

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: 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.

**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.

Resources

Test Documents

Billing

For Providers

Targeted Variant Testing

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