J Pediatr Genet 2023; 12(04): 273-279
DOI: 10.1055/s-0041-1741008
Original Article

The Utilization of MS-MLPA as the First-Line Test for the Diagnosis of Prader–Willi Syndrome in Thai Patients

1   Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Preyaporn Onsod
1   Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
1   Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Budsaba Rerkamnuaychoke
1   Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Duangrurdee Wattanasirichaigoon
2   Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
1   Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
› Author Affiliations
Funding None.


Prader–Willi syndrome (PWS) is a genetic disorder caused by the expression disruption of genes on the paternally inherited allele of chromosome 15q11.2-q13. Apart from clinical diagnostic criteria, PWS is confirmed by genetic testing. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is one of the molecular techniques used to analyze this syndrome. This study aimed to evaluate the concordance of the test results of MS-MLPA with conventional techniques in the diagnosis of PWS in Thai patients. Forty leftover specimens from routine genetic testing (MS-PCR and FISH) were tested to obtain MS-MLPA results. By comparison, perfect concordance was shown between the result of MS-MLPA and those of conventional techniques. In conclusion, MS-MLPA is an accurate and cost-effective assay that can be used to confirm PWS diagnosis with explicit deletion of affected genes.

Authors' Contributions

C.P. designed the study, collected data, performed genetic testing, and wrote the manuscript; P.O., V.K., and B.R. supervised genetic testing and provided samples; D.W. was an attending physician, who supervised and provided samples and clinical data; and T.K. designed the study, supervised for data analysis, and revised the manuscript.

Supplementary Material

Publication History

Received: 04 August 2021

Accepted: 22 November 2021

Article published online:
07 January 2022

© 2022. Thieme. All rights reserved.

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