Case study series

 

Your partners at Thermo Fisher Scientific would like to invite you to our case review video series. These presentations will focus on some of the most interesting cases giving further evidence that chromosomal microarray remains an important tool in the armamentarium for the investigation of chromosome abnormalities causing a range of congenital and developmental phenotypes.

Case #3 Hybrid SNP array analysis in action: a practical approach to complex problems in the era of NGS

Dr. Kristen Deak, PhD
Associate Director of Cytogenetics and Molecular Laboratories, Division of Molecular Pathology, Genetics and Genomics
Duke University

This final episode with Dr. Deak focuses on challenging chromosome rearrangements such as unbalanced insertions and inversions. Showcasing the value of microarray that ultimately found the answer to an otherwise unsolved question.

Topics include: 

  • How to put the puzzle pieces together 
  • Case workup, analysis, and major findings
  • Lessons learned

Watch case #3

Case #2 Hybrid SNP array analysis in action: a practical approach to complex problems in the era of NGS

Dr. Kristen Deak, PhD
Associate Director of Cytogenetics and Molecular Laboratories, Division of Molecular Pathology, Genetics and Genomics
Duke University

In this episode, Dr. Deak will illustrate complex chromosomal rearrangements and rare events including insertional duplications. 

Topics include: 

  • How to put the puzzle pieces together 
  • Case workup, analysis, and major findings
  • Lessons learned

Watch case #2

Case #1 Hybrid SNP array analysis in action: a practical approach to complex problems in the era of NGS

Dr. Catherine Rehder, PhD
Associate Professor of Pathology and Director, Division of Molecular Pathology, Genetics and Genomics
Duke University

These cases will demonstrate the power of using both a SNP-based analysis combined with high resolution DNA copy number analysis in the identification of chromosome abnormalities and genetic aberrations associated with pregnancy loss and genetic syndromes.

Topics include: 

  • How to put the puzzle pieces together 
  • Case workup, analysis, and major findings
  • Lessons learned

Watch case #1

Using hybrid-SNP microarrays to delineate UPD in cytogenetic samples

Dr. Stuart Schwartz, Ph.D., FACMG
Associate VP and Senior Director of Cytogenetics
Laboratory Corporation of America at the Center for Molecular Biology and Pathology (CMBP)

Discover how hybrid-SNP Arrays made a difference in real world studies of complex genetic cases. Dr. Stuart Schwartz talks about how the use of hybrid-SNP arrays in identifying UPD increased the success of diagnosis in rare diseases.

Topics include:

  • Frequency and importance of UPD
  • Major findings: case studies
    • Normal karyotype and no CNV change
    • Recessive genes
    • Normal karyotype and NIPT
    • Suspected UPD or consanguinity
    • Mendelian Inheritance Error
    • Incorrect NIPT
  • Literature review
  • Summary and conclusion

Watch full video

 

Additional information from high-density SNPs

Additional information available with high-density SNP arrays
Faster workflow with CMA - DNA extracted live or dead cells amplified within a short period of time
Detection of CNV and SNP is possible due to higher resolution and probe density
Higher information yield is possible with CMA and it is recommended by ACOG and ACMG
Style Sheet for Global Design System

For Research Use Only. Not for use in diagnostic procedures.