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Sci Rep. 2019 Jun 4;9(1):8280. doi: 10.1038/s41598-019-44588-3.

Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.

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Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
The BioFactory Pte Ltd, Singapore, Republic of Singapore.
Khoo Teck Puat - National University Children's Medical Institute, National University Health System, Singapore, Republic of Singapore.
Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Republic of Singapore.
Department of Laboratory Medicine, National University Hospital, Singapore, Republic of Singapore.
Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.


Myotonic dystrophy type 1 is a multisystem disorder caused by the expansion of a trinucleotide repeat in the DMPK gene. In this study we evaluated the performance of the FastDM1TM DMPK sizing kit in myotonic dystrophy type 1 testing. This commercially available triplet repeat-primed PCR based kit was validated using reference and clinical samples. Based on testing with 19 reference samples, the assay yielded repeat sizes within three repeats from the consensus reference length, demonstrating an accuracy of 100%. Additionally, the assay generated consistent repeat size information with a concentration range of template-DNA, and upon repetition and reproduction (CV 0.36% to 0.41%). Clinical performance was established with 235 archived prenatal and postnatal clinical samples, yielding results of 100% sensitivity (95% CI, 97.29% to 100%) and 100% specificity (95% CI, 96.19% to 100%) in classifying the samples into the respective genotype groups of 5-35 (normal), 36-50 (non-pathogenic pre-expansion), 51-150 (unstable intermediate-sized pathogenic) or >150 (unstable pathogenic) CTG repeats, respectively. Furthermore, the assay identified interrupted repeat expansions in all samples known to have interruptions, and also identified interruptions in a subset of the clinical samples.

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