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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. Linda Hasadsri, PhD
Director, Molecular Technologies Laboratory and Chair of Equity, Inclusion, and Diversity (EID)
Department of Laboratory Medicine and Pathology, Mayo Clinic
Title: Utility of a custom targeted genotyping array for carrier screening research
Dr. Katie Rudd, PhD, FACMG
Medical Director, Cytogenetics and Genomic Microarray Lab
ARUP Laboratories
Title: Mendelian inheritance error: familial relationships and sample swaps
Dr. Elizabeth McCready, PhD
Associate Professor in the Department of Pathology and Molecular Medicine at McMaster University
Head of Molecular Cytogenetics at Hamilton Regional Laboratory Medicine Program (HRLMP) Genetics Laboratories
Title: SNP Chromosomal Microarray, the allelic difference
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