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Expanding AmplideX® Technology Across Neurodegenerative and Neurodevelopmental Disorders

Andrew Hadd, PhD & Thomas Prior, PhD
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Chapters

  • Introduction
  • Neurodevelopmental and neurodegenerative disorders
  • Repetitive DNA: More than 30 disorders associated with Short Tandem Repeats
  • AmplideX® PCR/CE FMR1* Reagents
  • AmplideX® PCR/CE TOMM40* Kit
  • AmplideX® PCR/CE C9orf72* Kit
  • Summary- Dr. Andrew Hadd
  • Introduction - Thomas W. Prior, PhD, FACMG
  • Myotonic Dystrophy
  • DMPK Gene
  • Pathogenesis: RNA Toxicity
  • OSU PCR Assay
  • Resolving Zygosity
  • Challenges in Myotonic Dystrophy Testing
  • OSU Southern Blot
  • Clinical Vignettes
  • Mosaicism in Myotonic Dystrophy
  • Asuragen’s AmplideX® PCR Technology
  • AmplideX® PCR/CE: Repeat Primer PCR
  • AmplideX® PCR/AGE: Gene Specific PCR
  • Conclusions

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