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

Chanita Prapasrat; Preyaporn Onsod; Veerawat Korkiatsakul; Budsaba Rerkamnuaychoke; Duangrurdee Wattanasirichaigoon; Takol Chareonsirisuthigul

doi:10.1055/s-0041-1741008

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

J Pediatr Genet. 2022 Jan 7;12(4):273-279. doi: 10.1055/s-0041-1741008. eCollection 2023 Dec.

Authors

Chanita Prapasrat¹, Preyaporn Onsod¹, Veerawat Korkiatsakul¹, Budsaba Rerkamnuaychoke¹, Duangrurdee Wattanasirichaigoon², Takol Chareonsirisuthigul¹

Affiliations

¹ Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
² Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Abstract

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.

Keywords: Imprinting disorder; MS-MLPA; PWS.

Grants and funding

Funding None.