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2016 ACMG Asuragen Symposium

Tuesday, March 29, 2016
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Chapters

  • Debra Lilienthal Introduction
  • Fragile X Syndrome
  • Referrals for PGD for fragile X
  • Genetic counseling for fragile X carriers
  • Rational behind considering PGD
  • IVF and PGD basics
  • Costs of PGD
  • Factors affecting chance of successful IVF
  • PGD for fragile X
  • Average number of eggs/embryos based on maternal age
  • PGS results in day 5/6 embryos
  • Case #1
  • Case #2
  • Case #3
  • Conclusion
  • Stela Filipovic-Sadic Introduction
  • Research collaboration with Cornell University
  • FMR1: One Gene, Multiple Disorders
  • AmplideX® Technology
  • Use of single cells for FMR1 genotyping
  • Overview of study design
  • Results of FMR1 genotyping
  • Sporadic random allele dropouts
  • Feasibility of direct PCR
  • Conclusion
 

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