CASE STUDIES & WEBINARS

Diagnostic Testing
with Genomic Unity®

Interactive Case Studies

Upcoming Webinars

Surprise diagnoses – Whole genome sequencing uncovers the unexpected

Rare disease patients often present with a complex array of clinical symptoms, making it difficult to identify the best test or series of tests to order. Testing based on whole genome sequencing (WGS) methodology covers a broader range of variant types than other NGS methods, making it ideally suited for unraveling the complexities of rare disease cases. In this talk we will present a series of case studies where WGS-based testing uniquely identified causal variants for two underlying genetic disorders and other unexpected findings, supporting the need for unbiased testing to identify causal genetic variants.

Presented by: Christine Stanley, PhD, FACMG

April 29th 11:30am ET (8:30am PT)

Reporting multiple variant types in a single report: A look behind the scenes

Testing based on whole genome sequencing (WGS) methodology covers a broader range of variant types than other NGS methods. Including single nucleotide variants, indels, exon-level deletions and duplications, copy number variants (CNVs) and tandem repeat expansions. The ability to report on these different variant types within a single clinical report makes WGS-based testing ideally suited for unraveling the complexities of rare disease cases. In this talk we will take you through our phenotype-driven interpretation and reporting processes for each of these major variant types, providing a guide to understanding your patient’s test results.

Presented by: Holly Head, MS, CGC

May 20th 11:30am ET (8:30am PT)

On-demand webinars

Unraveling Complex Ataxia Cases Through Whole Genome Sequencing

Ataxias are caused by a uniquely complex array of variant types including single nucleotide variants, indels, exon-level deletions and duplications, copy number variants (CNVs) and tandem repeat expansions. Testing based on whole genome sequencing (WGS) methodology covers a broader range of variant types than other NGS methods, making it ideally suited for unraveling the complexities of ataxia cases. In this talk we will discuss the unique aspects of WGS-based testing and will present a series of ataxia cases, including ones where testing identified causal variants of two different types in the same patient.

The exome blind spot: Genomes catch what exomes miss

Listen in as Christine Stanley, PhD, FACMG, discusses how genome testing differs from panel and exome testing and presents a series of cases recently solved using Genomic Unity® whole genome testing. All of the cases highlight causative variants that could not have been identified by exome sequencing.

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