Case study series

 

Challenging microarray cases and the approaches for analysis of unusual findings

Stuart Schwartz, PhD, FACMG
Strategic Director, Cytogenetics, Women’s Health and Genetics
Labcorp

How can you solve more unusual cases with CMA?

Microarray analysis continues to be an important technology in cytogenetics laboratories.

Not all findings are straightforward, and a combination of copy number variants (CNV) and SNP alleles must be utilized to resolve the underlying anomalies and their mechanism of formation.

In this short webinar, learn from Dr. Schwartz as he speaks to several novel and unusual prenatal and oncology cases.

Topics include:

  • Mosaicism
  • NIPT follow‑ups
  • Uniparental disomy
  • Copy-neutral loss of heterozygosity
  • Transplant study cases

Watch full webinar

Determining the genetic cause of disease by application of exon-level array as a complement to exome sequencing

Dr. Benjamin Hilton
Assistant Director of the Cytogenomics Laboratory
Greenwood Genetics Center

How can you increase your discovery yield?

Whole-exome sequencing (WES) and whole-genome microarray have allowed for the discovery of a wide variety of diseases that are associated with aberrations in the genome. However, these technologies may not detect some exon-level copy number variation (CNV), leaving cases unsolved. The implementation of an exon-level array has allowed for the evaluation of exon-level CNVs that previously were either difficult to identify or missed entirely by other testing methods.

By bridging the gap of detection between these technologies, Dr. Hilton illustrates how an answer can be attained.

Topics include:

  • Recommendation of cytogenetic evaluation to look for chromosomal abnormalities
  • Workflow
  • Case review for various research areas such as abnormal prenatal testing, multiple congenital anomalies, and fetal demise
  • Case findings and key learnings  

Watch full webinar

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 in researching 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

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 #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

Using hybrid-SNP microarrays to delineate UPD in cytogenetic samples

Stuart Schwartz, PhD, FACMG
Strategic Director, Cytogenetics, Women’s Health and Genetics
Labcorp

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 may increase the success of diagnosis in future.

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.