Case study series

 

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)

In this new video series, 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.