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Mol Genet Metab. 2014 Apr;111(4):507-12. doi: 10.1016/j.ymgme.2014.02.004. Epub 2014 Feb 17.

High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry.

Author information

  • 1Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
  • 2Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
  • 3Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Mackay Junior College of Medicine, Nursing, and Management, Taipei, Taiwan; Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.
  • 4Feng Chi Biotech Corp., Taipei, Taiwan.
  • 5Institute of Molecular and Genomic Medicine, National Health Research Institutes, Miaoli, Taiwan; Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, Taiwan; VYM Genome Research Center, National Yang-Ming University, Taipei, Taiwan. Electronic address:
  • 6Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. Electronic address:



In view of the therapeutic benefits resulting from early intervention for Fabry disease, our team has implemented an enzyme-based newborn screening in Taiwan since 2008. However, we found that most heterozygous females cannot be detected. To improve the screening efficiency, a more effective method for GLA gene genotyping is necessary.


As the suspected mutations are limited to only 29 different spots in Taiwanese, a panel of Sequenom iPLEX assay was designed for rapid screening of GLA variations. To determine the accuracy and sensitivity of this assay, previously diagnosed and undiagnosed DNA samples were analyzed by this genotyping assay and Sanger sequencing. In addition, DNA extracted from dried blood spots was also tested.


Sequenom iPLEX assay is accurate and cost-effective, identifying the sequence variations, which were designated in the panel. It identified common GLA variants in DNA samples extracted from whole blood or dried blood spots with 100% accuracy and sensitivity.


Sequenom iPLEX assay is suitable for Fabry newborn screening when hotspot mutations and common variations are known in a well-studied population. In addition, this assay can also be applied for first-line determination of GLA variant sequences in suspected subjects of high-risk patients, or newborns.

Copyright ┬ę 2014 Elsevier Inc. All rights reserved.


Fabry disease; GLA genotyping; Sequenom iPLEX assay; Sequenom's MassARRAY®

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