Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.
Boram KimYongsook ParkSung Im ChoMan Jin KimJong-Hee ChaeJi Yeon KimMoon-Woo SeongWoonhyoung LeePublished in: Annals of laboratory medicine (2021)
MS-MLPA has clinical utility for the diagnosis of PWS/AS, and it is superior to MS-PCR in that it can identify the molecular mechanism underlying the disease.