Test Methods
Methylation-specific MLPA
Specimen Types Accepted
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
We recommend methylation-specific (MS)-MLPA as the initial test for Angelman and Prader-Willi syndromes. This testing will identify patients with abnormal methylation, large deletions and imprinting center deletions. Those patients with abnormal methylation, but no deletion, should pursue UPD testing for UPD15. Angelman syndrome patients with normal methylation should consider sequencing for UBE3A.