Rett/Angelman Syndrome Panel

New York
Approved


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

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, 81405x3, 81406x4, 81479x1, 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.