Study Data from University of Colombo Provide New Insights into Angelman Syndrome (Evaluation of an In-house Genetic Testing Method for Confirming Prader-willi and Angelman Syndromes In Sri Lanka).

A recent study conducted at the University of Colombo in Sri Lanka has evaluated an in-house genetic testing method for confirming Prader-Willi syndrome (PWS) and Angelman syndrome (AS). These syndromes are caused by imprinting defects of chromosome 15q11-13. The study found that the in-house method, along with methylation-specific PCR (MS-PCR), was a reliable, cost-effective, and time-saving approach for genetic testing of suspected PWS/AS cases. The research also highlighted the need for additional testing, such as UBE3A mutation testing and imprinting center mutation/deletion testing, in certain cases. This study provides valuable insights into genetic testing methods for PWS and AS in low- and middle-income countries like Sri Lanka. [Extracted from the article]