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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Molecular Diagnosis of Prader-Willi and Angelman S ...
Molecular Diagnosis of Prader-Willi and Angelman Syndromes using Methylation-Specific MLPA
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The document discusses the use of methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) for the molecular diagnosis of Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS). PWS and AS are genetic disorders caused by abnormalities in the 15q11q13 region of chromosome 15. The region contains imprinted genes that are expressed either paternally or maternally.<br /><br />Currently, methylation-specific PCR (MS-PCR) is used for genotyping PWS and AS, but it does not provide copy number information or differentiate between a deletion and uniparental disomy (UPD) or imprinting center (IC) defects. MS-MLPA, on the other hand, is a rapid and accurate testing strategy that can distinguish between a deletion and UPD/IC defect.<br /><br />The study validated the use of the MS-MLPA kit ME028-D1 from MRC Holland. Whole blood samples previously tested for PWS or AS using MS-PCR were re-evaluated with MS-MLPA, and 100% genotype concordance was observed. The assay showed >99% analytical sensitivity and specificity with no false negatives or positives.<br /><br />The document also includes two case studies that were tested using the MS-MLPA kit. While the kit is not validated for genotypes other than those related to PWS and AS, it was able to confirm the orthogonal test results.<br /><br />MS-MLPA is described as a cost-effective, accurate, and efficient molecular diagnostic tool for PWS and AS, with a clinical sensitivity of >99% for PWS and approximately 80% for AS.<br /><br />ARUP, the organization conducting the study, plans to transfer their testing technology from MS-PCR to MS-MLPA in March 2023.<br /><br />In conclusion, the document provides detailed information about the use and validation of MS-MLPA for the diagnosis of PWS and AS, highlighting its advantages over current testing methods and its potential as a clinical tool.
Asset Subtitle
Presenting Author - Jessica N. Toth, PhD; Co-Author - Melinda Procter, BS, MB(ASCP); Co-Author - Anastasia Pflaum, HSDIP; Co-Author - Eric Fredrickson, PhD; Co-Author - Rong Mao, MD;
Meta Tag
Genetic Testing
Methodology
Methylation
Uniparental Disomy
Co-Author
Melinda Procter, BS, MB(ASCP)
Co-Author
Anastasia Pflaum, HSDIP
Co-Author
Eric Fredrickson, PhD
Co-Author
Rong Mao, MD
Presenting Author
Jessica N. Toth, PhD
Keywords
MS-MLPA
molecular diagnosis
Prader-Willi Syndrome
PWS
Angelman Syndrome
AS
genetic disorders
copy number information
deletion
uniparental disomy
© 2024 American College of Medical Genetics and Genomics. All rights reserved.
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