There is broad clinical variability in the severity of Rett syndrome, including a milder variant of Rett syndrome.  Infant girls with Angelman syndrome having seizures and severe speech impairment can resemble girls with Rett syndrome. There is also overlap between the clinical features and etiology of AS, X-linked Angelman-like syndrome and Pitt Hopkins Syndrome.  We offer full gene sequencing for all coding exons and the intron/exon boundaries of MECP2, UBE3A, SLC9A6, and TCF4.  We also offer MLPA to detect intragenic deletions and duplications within MECP2.  These tests are offered together as a panel or separately. 

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