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

Journal of Pediatric Genetics, Table of Contents

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

Chanita Prapasrat

¹Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

,

Preyaporn Onsod

¹Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

,

Veerawat Korkiatsakul

¹Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

,

Budsaba Rerkamnuaychoke

¹Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

,

Duangrurdee Wattanasirichaigoon

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

,

Takol Chareonsirisuthigul

¹Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

› Author Affiliations

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

PWS - MS-MLPA - Imprinting disorder

Full Text

References

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Supplementary Material

Supplementary Material