These case examples will highlight the unique position that CMA holds in prenatal and postnatal testing, providing resolution to otherwise unsolved clinical research questions.
Dr. Stuart Schwartz, PhD, FACMG
Strategic Director, Cytogenetics, Women’s Health and Genetics
Labcorp
Title: Challenging microarray cases- approaches for analysis of unusual findings
Title: Using hybrid SNP microarrays to delineate Uniparental Disomy (UPD)
Dr. Benjamin Hilton, PhD
Assistant Director of the Cytogenomics Laboratory
Greenwood Genetics Center
Title: Determining the genetic cause of disease by application of exon- level array as a complement to exome sequencing
Dr. Kristen Deak, PhD
Associate Director of Cytogenetics and Molecular Laboratories, Division of Molecular Pathology, Genetics and Genomics
Duke University
Title: Case #2 & #3 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
Title: Case #1 Hybrid SNP array analysis in action: a practical approach to complex problems in the era of NGS