Rett/Angelman Syndromes Panel

Panel description

Rett syndrome, Angelman syndrome, and several similar conditions cause neurodevelopmental concerns and often include mobility concerns and a risk of seizures. Rett syndrome is found in approximately 1 in 8,500 females.1 Angelman syndrome is found in as many as 1 in 12,000 males and females.2 It is unknown how often the atypical presentations of these syndromes occur. This indication-specific panel is designed to detect both sequence-based mutations and small-scale deletions or duplications within 16 genes associated with Rett syndrome, atypical Rett syndrome, Angelman syndrome, and Angelman-like syndrome.

GENES INCLUDED: ARX, ATRX, CDKL5, CNTNAP2, EHMT1, FOXG1, MBD5, MECP2, MEF2C, NRXN1, PCDH19, PNKP, SLC9A6, TCF4, UBE3A, ZEB2

INDICATIONS FOR TESTING:

Panel overlap

Due to the phenotypic overlap between various syndromes, the Autism/Intellectual Disability/Multiple Anomalies Panel, which covers all the genes in the Rett/Atypical Rett/Angelman/Angelman-like Syndromes panel, as well as additional genes of clinical significance, may be appropriate for some patients.


Recommended testing strategy

Tests below can be ordered individually, however our laboratory’s recommended Comprehensive Testing for Rett, Atypical Rett, Angelman, and Angelman-like syndromes includes the following three tests:

IF INDICATED, add Methylation 15 studies:  Methylation abnormalities of Chromosome 15 are found in ~ 78% of individuals with Angelman syndrome.4 Methylation Analysis will identify methylation errors as a result of mechanisms NOT detected by SNP Microarray Analysis and is recommended for patients with a phenotype suggestive of Angelman syndrome.


  1. “Rett Syndrome,” Genetics Home Reference. February 25, 2014.
  2. Steffenburg, S, C L Gillberg, U Steffenburg, and M Kyllerman. “Autism in Angelman Syndrome: A Population-Based Study.” Pediatric Neurology. 14, no. 2 (February 1996): 131–136.
  3. Christodoulou, John, and Gladys Ho. “MECP2-Related Disorders.” In GeneReviews®, edited by Roberta A Pagon, Margaret P Adam, Thomas D Bird, Cynthia R Dolan, Chin-To Fong, and Karen Stephens. Seattle (WA): University of Washington, Seattle, 1993.
  4. Dagli, Aditi I, and Charles A Williams. “Angelman Syndrome.” In GeneReviews®, edited by Roberta A Pagon, Margaret P Adam, Thomas D Bird, Cynthia R Dolan, Chin-To Fong, Richard JH Smith, and Karen Stephens. Seattle (WA): University of Washington, Seattle, 1993.